2-234463184-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234463184
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234463184
    reference: chr 2
allele count: 3
allele frequency: 2.570385729218432e-5
allele num: 116714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.547-12T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.583-12T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.593-12T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.547-12T>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11998
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6893
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3750
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10780
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21430
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-234463188-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234463188
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234463188
    reference: chr 2
allele count: 4
allele frequency: 3.434714661079531e-5
allele num: 116458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.547-16T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.593-16T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.547-16T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.583-16T>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
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genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10776
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 58
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genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7347
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genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-234463190-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234463190
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234463190
    reference: chr 2
allele count: 1
allele frequency: 8.606444505645828e-6
allele num: 116192
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.583-18T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.547-18T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.547-18T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.593-18T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5753
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 284
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-234463198-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234463198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234463198
    reference: chr 2
allele count: 8
allele frequency: 6.927726493358043e-5
allele num: 115478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.593-26C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.547-26C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.547-26C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.583-26C>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10768
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

2-234463199-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234463199
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234463199
    reference: chr 2
allele count: 2
allele frequency: 1.732051615138131e-5
allele num: 115470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.547-27T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.547-27T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.583-27T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.593-27T>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

2-234463210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234463210
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234463210
    reference: chr 2
allele count: 1
allele frequency: 8.800957544180806e-6
allele num: 113624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.593-38G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.547-38G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.583-38G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.547-38G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5555
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5798
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234465467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465467
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465467
    reference: chr 2
allele count: 162
allele frequency: 1.88745193988116e-3
allele num: 85830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.592+34T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.546+34T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.546+34T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.698T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.582+34T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 2.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12665
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4638
  bin: 1.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16303
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18239
  bin: 1.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12383
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5203
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 1
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-234465472-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465472
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465472
    reference: chr 2
allele count: 1
allele frequency: 1.143144562061318e-5
allele num: 87478
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.582+29A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.693A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.592+29A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.546+29A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.546+29A>C
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17375
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-234465475-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465475
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465475
    reference: chr 2
allele count: 2
allele frequency: 2.254842273782949e-5
allele num: 88698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.546+26A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.592+26A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.582+26A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.690A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.546+26A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20188
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/2-234465483-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465483
    reference: chr 2
allele count: 3
allele frequency: 3.138666276077086e-5
allele num: 95582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.546+18T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.546+18T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.682T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.592+18T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.582+18T>G
  variant of: http://identifiers.org/hgnc/20069
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28575
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-234465493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465493
    reference: chr 2
allele count: 1
allele frequency: 9.343698609657647e-6
allele num: 107024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.546+8T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.546+8T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.592+8T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.582+8T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.672T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37649
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6928
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.75e1
  variant carriers: 0
hgvs: c.582+8T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-234465496-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465496
    reference: chr 2
allele count: 3
allele frequency: 2.74273176083379e-5
allele num: 109380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.582+5A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.546+5A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.592+5A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.669A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.546+5A>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3037
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4114
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 2.75e1
  variant carriers: 0
hgvs: c.582+5A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-234465509-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465509
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465509
    reference: chr 2
allele count: 7
allele frequency: 6.002195088489505e-5
allele num: 116624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.538G>A
  hgvsp: ENSP00000387898.2:p.Glu180Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.656G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.584G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.538G>A
  hgvsp: ENSP00000251722.6:p.Glu180Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.574G>A
  hgvsp: ENSP00000415434.1:p.Glu192Lys
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7776
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43432
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu192Lys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-234465510-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465510
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465510
    reference: chr 2
allele count: 10
allele frequency: 8.529075618784436e-5
allele num: 117246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.537C>T
  hgvsp: ENST00000427112.2:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.655C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.583C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.537C>T
  hgvsp: ENST00000251722.6:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.573C>T
  hgvsp: ENST00000450966.1:c.573C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7938
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser191Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-234465513-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465513
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465513
    reference: chr 2
allele count: 1
allele frequency: 8.450513791238508e-6
allele num: 118336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.534T>C
  hgvsp: ENST00000427112.2:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.580T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.652T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.570T>C
  hgvsp: ENST00000450966.1:c.570T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.534T>C
  hgvsp: ENST00000251722.6:c.534T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44665
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val190Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-234465515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465515
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465515
    reference: chr 2
allele count: 2
allele frequency: 1.684721262867059e-5
allele num: 118714
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.568G>A
  hgvsp: ENSP00000415434.1:p.Val190Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.532G>A
  hgvsp: ENSP00000251722.6:p.Val178Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.532G>A
  hgvsp: ENSP00000387898.2:p.Val178Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.650G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.578G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43211
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val190Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-234465516-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465516
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465516
    reference: chr 2
allele count: 1
allele frequency: 8.405339071378139e-6
allele num: 118972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.577C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.649C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.567C>T
  hgvsp: ENST00000450966.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.531C>T
  hgvsp: ENST00000427112.2:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.531C>T
  hgvsp: ENST00000251722.6:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45052
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn189Asn
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-234465521-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465521
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465522
    reference: chr 2
allele count: 1
allele frequency: 8.370162046337218e-6
allele num: 119472
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.525dupT
  hgvsp: ENSP00000251722.6:p.Lys176Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.525dupT
  hgvsp: ENSP00000387898.2:p.Lys176Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.643dupT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.561dupT
  hgvsp: ENSP00000415434.1:p.Lys188Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.571dupT
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys188Ter
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-234465524-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465524
    reference: chr 2
allele count: 24
allele frequency: 2.004208838560978e-4
allele num: 119748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.559T>C
  hgvsp: ENSP00000415434.1:p.Cys187Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.569T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.523T>C
  hgvsp: ENSP00000387898.2:p.Cys175Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.641T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.523T>C
  hgvsp: ENSP00000251722.6:p.Cys175Arg
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43332
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45405
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys187Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-234465528-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465528
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465528
    reference: chr 2
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.637A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.519A>C
  hgvsp: ENSP00000251722.6:p.Lys173Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.565A>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.555A>C
  hgvsp: ENSP00000415434.1:p.Lys185Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.519A>C
  hgvsp: ENSP00000387898.2:p.Lys173Asn
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys185Asn
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-234465540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465540
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465540
    reference: chr 2
allele count: 1
allele frequency: 8.310893919750009e-6
allele num: 120324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.507G>A
  hgvsp: ENST00000251722.6:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.553G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.507G>A
  hgvsp: ENST00000427112.2:c.507G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.625G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.543G>A
  hgvsp: ENST00000450966.1:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln181Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-234465543-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465543
    reference: chr 2
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.540C>A
  hgvsp: ENSP00000415434.1:p.Asn180Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.550C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.504C>A
  hgvsp: ENSP00000251722.6:p.Asn168Lys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.622C>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.504C>A
  hgvsp: ENSP00000387898.2:p.Asn168Lys
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn180Lys
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

2-234465556-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465556
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465556
    reference: chr 2
allele count: 7
allele frequency: 5.804793100588772e-5
allele num: 120590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.609G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.491G>C
  hgvsp: ENSP00000387898.2:p.Gly164Ala
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.537G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.527G>C
  hgvsp: ENSP00000415434.1:p.Gly176Ala
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.491G>C
  hgvsp: ENSP00000251722.6:p.Gly164Ala
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly176Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-234465562-T-TACAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465562
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465566
    reference: chr 2
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: TACAG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.517_520dupCTGT
  hgvsp: ENSP00000415434.1:p.Tyr174SerfsTer8
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.599_602dupCTGT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.481_484dupCTGT
  hgvsp: ENSP00000387898.2:p.Tyr162SerfsTer8
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.527_530dupCTGT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.481_484dupCTGT
  hgvsp: ENSP00000251722.6:p.Tyr162SerfsTer8
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr174SerfsTer8
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

2-234465568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465568
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465568
    reference: chr 2
allele count: 3
allele frequency: 2.485995558354602e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.479G>A
  hgvsp: ENSP00000387898.2:p.Arg160His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.525G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.597G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.515G>A
  hgvsp: ENSP00000415434.1:p.Arg172His
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.479G>A
  hgvsp: ENSP00000251722.6:p.Arg160His
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg172His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-234465569-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465569
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465569
    reference: chr 2
allele count: 2
allele frequency: 1.657275439177991e-5
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.524C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.478C>T
  hgvsp: ENSP00000251722.6:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.478C>T
  hgvsp: ENSP00000387898.2:p.Arg160Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.596C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.514C>T
  hgvsp: ENSP00000415434.1:p.Arg172Cys
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5502
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg172Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

2-234465571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465571
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465571
    reference: chr 2
allele count: 4
allele frequency: 3.314386092835955e-5
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.512A>G
  hgvsp: ENSP00000415434.1:p.Tyr171Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.476A>G
  hgvsp: ENSP00000387898.2:p.Tyr159Cys
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.522A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.594A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.476A>G
  hgvsp: ENSP00000251722.6:p.Tyr159Cys
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr171Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-234465572-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465572
    reference: chr 2
allele count: 1237
allele frequency: 1.024888977265195e-2
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.511T>A
  hgvsp: ENSP00000415434.1:p.Tyr171Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.593T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.475T>A
  hgvsp: ENSP00000251722.6:p.Tyr159Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.475T>A
  hgvsp: ENSP00000387898.2:p.Tyr159Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.521T>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.75e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42104
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45052
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 9.75e1
  variant carriers: 1199
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Tyr171Asn
num of homozygotes: 34
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-234465576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465576
    reference: chr 2
allele count: 3
allele frequency: 2.485336514564072e-5
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.471C>T
  hgvsp: ENST00000251722.6:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.471C>T
  hgvsp: ENST00000427112.2:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.589C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.517C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.507C>T
  hgvsp: ENST00000450966.1:c.507C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu169Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/2-234465577-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465577
    reference: chr 2
allele count: 2
allele frequency: 1.656863557286057e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.506T>G
  hgvsp: ENSP00000415434.1:p.Leu169Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.516T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.588T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.470T>G
  hgvsp: ENSP00000251722.6:p.Leu157Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.470T>G
  hgvsp: ENSP00000387898.2:p.Leu157Arg
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu169Arg
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-234465578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465578
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.515C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.587C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.469C>T
  hgvsp: ENSP00000251722.6:p.Leu157Phe
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.469C>T
  hgvsp: ENSP00000387898.2:p.Leu157Phe
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.505C>T
  hgvsp: ENSP00000415434.1:p.Leu169Phe
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu169Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-234465580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465580
    reference: chr 2
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.513A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.503A>G
  hgvsp: ENSP00000415434.1:p.Asp168Gly
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.467A>G
  hgvsp: ENSP00000387898.2:p.Asp156Gly
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.467A>G
  hgvsp: ENSP00000251722.6:p.Asp156Gly
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.585A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5520
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp168Gly
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234465583-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465583
    reference: chr 2
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.464A>G
  hgvsp: ENSP00000387898.2:p.His155Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.582A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.464A>G
  hgvsp: ENSP00000251722.6:p.His155Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.510A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.500A>G
  hgvsp: ENSP00000415434.1:p.His167Arg
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His167Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

2-234465587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465587
    reference: chr 2
allele count: 2
allele frequency: 1.656671415791392e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.460G>A
  hgvsp: ENSP00000251722.6:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.460G>A
  hgvsp: ENSP00000387898.2:p.Gly154Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.578G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.506G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.496G>A
  hgvsp: ENSP00000415434.1:p.Gly166Ser
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45361
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly166Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

2-234465588-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465588
    reference: chr 2
allele count: 3
allele frequency: 2.485007123687088e-5
allele num: 120724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.459C>T
  hgvsp: ENST00000251722.6:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.459C>T
  hgvsp: ENST00000427112.2:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.495C>T
  hgvsp: ENST00000450966.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.577C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.505C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser165Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-234465596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465596
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465596
    reference: chr 2
allele count: 2
allele frequency: 1.656506758547575e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.451G>C
  hgvsp: ENSP00000251722.6:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.451G>C
  hgvsp: ENSP00000387898.2:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.487G>C
  hgvsp: ENSP00000415434.1:p.Gly163Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.497G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.569G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly163Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

2-234465599-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465599
    reference: chr 2
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.448G>A
  hgvsp: ENSP00000251722.6:p.Val150Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.566G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.494G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.484G>A
  hgvsp: ENSP00000415434.1:p.Val162Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.448G>A
  hgvsp: ENSP00000387898.2:p.Val150Ile
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val162Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

2-234465613-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465613
    reference: chr 2
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.434T>C
  hgvsp: ENSP00000251722.6:p.Leu145Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.434T>C
  hgvsp: ENSP00000387898.2:p.Leu145Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.552T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.480T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.470T>C
  hgvsp: ENSP00000415434.1:p.Leu157Ser
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45411
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu157Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-234465614-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465614
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.479T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.551T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.433T>C
  hgvsp: ENST00000251722.6:c.433T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.433T>C
  hgvsp: ENST00000427112.2:c.433T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.469T>C
  hgvsp: ENST00000450966.1:c.469T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5518
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu157Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

2-234465617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465617
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465617
    reference: chr 2
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.476G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.430G>A
  hgvsp: ENSP00000387898.2:p.Ala144Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.466G>A
  hgvsp: ENSP00000415434.1:p.Ala156Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.548G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.430G>A
  hgvsp: ENSP00000251722.6:p.Ala144Thr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala156Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

2-234465618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465618
    reference: chr 2
allele count: 239
allele frequency: 1.979656749055729e-3
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.429C>T
  hgvsp: ENST00000251722.6:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.465C>T
  hgvsp: ENST00000450966.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.429C>T
  hgvsp: ENST00000427112.2:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.475C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.547C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 9.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42015
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45406
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser155Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

2-234465619-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465618
    reference: chr 2
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.545delA
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.463delA
  hgvsp: ENSP00000415434.1:p.Ser155AlafsTer7
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.427delA
  hgvsp: ENSP00000251722.6:p.Ser143AlafsTer7
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.473delA
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.427delA
  hgvsp: ENSP00000387898.2:p.Ser143AlafsTer7
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45485
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser155AlafsTer7
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: CT
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-234465626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465626
    reference: chr 2
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.467C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.421C>T
  hgvsp: ENSP00000251722.6:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.539C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.421C>T
  hgvsp: ENSP00000387898.2:p.Leu141Phe
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.457C>T
  hgvsp: ENSP00000415434.1:p.Leu153Phe
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu153Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-234465628-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465628
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465628
    reference: chr 2
allele count: 15
allele frequency: 1.242627079329313e-4
allele num: 120712
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.419T>A
  hgvsp: ENSP00000251722.6:p.Ile140Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.455T>A
  hgvsp: ENSP00000415434.1:p.Ile152Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.465T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.419T>A
  hgvsp: ENSP00000387898.2:p.Ile140Asn
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.537T>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile152Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

2-234465631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465631
    reference: chr 2
allele count: 5
allele frequency: 4.142296157606084e-5
allele num: 120706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.416G>A
  hgvsp: ENSP00000251722.6:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.452G>A
  hgvsp: ENSP00000415434.1:p.Arg151Gln
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.416G>A
  hgvsp: ENSP00000387898.2:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.534G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.462G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg151Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

2-234465632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465632
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.415C>T
  hgvsp: ENSP00000387898.2:p.Arg139Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.415C>T
  hgvsp: ENSP00000251722.6:p.Arg139Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.533C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.451C>T
  hgvsp: ENSP00000415434.1:p.Arg151Ter
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.461C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg151Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ

2-234465643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465643
    reference: chr 2
allele count: 1
allele frequency: 8.287613333112331e-6
allele num: 120662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.522A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.404A>G
  hgvsp: ENSP00000387898.2:p.Gln135Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.404A>G
  hgvsp: ENSP00000251722.6:p.Gln135Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.440A>G
  hgvsp: ENSP00000415434.1:p.Gln147Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.450A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln147Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

2-234465669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465669
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465669
    reference: chr 2
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-4G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-4G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-4G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-4G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-4G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
hgvs: c.418-4G>A
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: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-234465671-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465671
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465671
    reference: chr 2
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-6T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-6T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-6T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-6T>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-6T>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.25e1
  variant carriers: 0
hgvs: c.418-6T>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-234465676-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465676
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465676
    reference: chr 2
allele count: 2
allele frequency: 1.66292508522491e-5
allele num: 120270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-11C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-11C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-11C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-11C>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-11C>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

2-234465685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465685
    reference: chr 2
allele count: 3
allele frequency: 2.498292833230626e-5
allele num: 120082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-20A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-20A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-20A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-20A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-20A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40484
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 260
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genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 566
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 458
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genotype quality: GenotypeQuality
  all individuals: 2014
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-234465689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465689
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465689
    reference: chr 2
allele count: 1
allele frequency: 8.334444592612349e-6
allele num: 119984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-24A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-24A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-24A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-24A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-24A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

2-234465697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465697
    reference: chr 2
allele count: 1
allele frequency: 8.355475342992263e-6
allele num: 119682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-32G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-32G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-32G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-32G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-32G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8231
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40890
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

2-234465698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465698
    reference: chr 2
allele count: 14
allele frequency: 1.169981614574628e-4
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-33C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
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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
  all individuals: 583
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
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genotype quality: GenotypeQuality
  all individuals: 2546
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genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-234465703-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234465703
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234465703
    reference: chr 2
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.382-38A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.418-38A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.382-38A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.428-38A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.500-38A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37060
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 565
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genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-234468424-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468424
    reference: chr 2
allele count: 1
allele frequency: 2.489172101359088e-5
allele num: 40174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+33C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+33C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 800
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8374
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-234468444-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468444
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 48072
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+13G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+13G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+13G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+13G>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+13G>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32401
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-234468448-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468448
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468448
    reference: chr 2
allele count: 4
allele frequency: 7.792713812585232e-5
allele num: 51330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+9A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+9A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+9A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+9A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+9A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12723
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

2-234468449-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468449
    reference: chr 2
allele count: 2
allele frequency: 3.860705737008725e-5
allele num: 51804
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+8G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+8G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+8G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+8G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+8G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5707
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
hgvs: c.417+8G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/2-234468450-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468450
    reference: chr 2
allele count: 268
allele frequency: 5.059849714911453e-3
allele num: 52966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+7G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+7G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+7G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+7G>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+7G>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 1.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12251
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 1.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 31142
  bin: 7.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.75e1
  variant carriers: 266
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30604
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 2.75e1
  variant carriers: 0
hgvs: c.417+7G>T
num of homozygotes: 2
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-234468452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468452
    reference: chr 2
allele count: 2
allele frequency: 3.669320808718306e-5
allele num: 54506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+5G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+5G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+5G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+5G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+5G>A
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
hgvs: c.417+5G>A
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-234468453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468453
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468453
    reference: chr 2
allele count: 10
allele frequency: 1.790189760114572e-4
allele num: 55860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+4C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+4C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+4C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+4C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+4C>T
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13670
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29857
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
hgvs: c.417+4C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

2-234468455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468455
    reference: chr 2
allele count: 1
allele frequency: 1.715207025487977e-5
allele num: 58302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.499+2T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.381+2T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.381+2T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.417+2T>C
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.427+2T>C
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
hgvs: c.417+2T>C
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-234468461-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468461
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468461
    reference: chr 2
allele count: 1
allele frequency: 1.577486118122161e-5
allele num: 63392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.377A>G
  hgvsp: ENSP00000251722.6:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.423A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.495A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.377A>G
  hgvsp: ENSP00000387898.2:p.Asn126Ser
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.413A>G
  hgvsp: ENSP00000415434.1:p.Asn138Ser
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27451
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn138Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-234468463-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468463
    reference: chr 2
allele count: 1
allele frequency: 1.543781647523774e-5
allele num: 64776
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.411T>G
  hgvsp: ENSP00000415434.1:p.Ser137Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.375T>G
  hgvsp: ENSP00000251722.6:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.421T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.493T>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.375T>G
  hgvsp: ENSP00000387898.2:p.Ser125Arg
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26587
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser137Arg
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

2-234468469-C-CATTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468473
    reference: chr 2
allele count: 2
allele frequency: 2.893518518518519e-5
allele num: 69120
alternate allele: CATTA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.368_369insTAAT
  hgvsp: ENSP00000387898.2:p.Trp123CysfsTer5
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.368_369insTAAT
  hgvsp: ENSP00000251722.6:p.Trp123CysfsTer5
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.404_405insTAAT
  hgvsp: ENSP00000415434.1:p.Trp135CysfsTer5
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.414_415insTAAT
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.486_487insTAAT
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1582
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Trp135CysfsTer5
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

2-234468470-C-CTCGTACCTCATTACTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468470
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468487
    reference: chr 2
allele count: 2
allele frequency: 2.862704683384862e-5
allele num: 69864
alternate allele: CTCGTACCTCATTACTGG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsp: ENSP00000251722.6:p.Trp123SerfsTer13
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsp: ENSP00000387898.2:p.Trp123SerfsTer13
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsp: ENSP00000415434.1:p.Trp135SerfsTer13
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4419
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp135SerfsTer13
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-234468482-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468482
    reference: chr 2
allele count: 1
allele frequency: 1.319156794976651e-5
allele num: 75806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.356A>T
  hgvsp: ENSP00000251722.6:p.Asp119Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.474A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.402A>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.356A>T
  hgvsp: ENSP00000387898.2:p.Asp119Val
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.392A>T
  hgvsp: ENSP00000415434.1:p.Asp131Val
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21664
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp131Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

2-234468485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468485
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468485
    reference: chr 2
allele count: 3
allele frequency: 3.895193331429016e-5
allele num: 77018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.353C>T
  hgvsp: ENSP00000387898.2:p.Thr118Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.353C>T
  hgvsp: ENSP00000251722.6:p.Thr118Ile
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.399C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.471C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.389C>T
  hgvsp: ENSP00000415434.1:p.Thr130Ile
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22725
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22269
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr130Ile
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-234468493-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468493
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468493
    reference: chr 2
allele count: 1
allele frequency: 1.261638616234766e-5
allele num: 79262
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.381A>G
  hgvsp: ENST00000450966.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.391A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.463A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.345A>G
  hgvsp: ENST00000251722.6:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.345A>G
  hgvsp: ENST00000427112.2:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala127Ala
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-234468504-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468504
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468504
    reference: chr 2
allele count: 1
allele frequency: 1.224050137093615e-5
allele num: 81696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.452G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.380G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.370G>A
  hgvsp: ENSP00000415434.1:p.Ala124Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.334G>A
  hgvsp: ENSP00000387898.2:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.334G>A
  hgvsp: ENSP00000251722.6:p.Ala112Thr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala124Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-234468507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468507
    reference: chr 2
allele count: 1
allele frequency: 1.219274287943816e-5
allele num: 82016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.331G>A
  hgvsp: ENSP00000251722.6:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.449G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.377G>A
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.367G>A
  hgvsp: ENSP00000415434.1:p.Ala123Thr
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.331G>A
  hgvsp: ENSP00000387898.2:p.Ala111Thr
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala123Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-234468508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468508
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 82438
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.330A>G
  hgvsp: ENST00000251722.6:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.366A>G
  hgvsp: ENST00000450966.1:c.366A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.448A>G
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.330A>G
  hgvsp: ENST00000427112.2:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.376A>G
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18571
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu122Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234468514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234468514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234468514
    reference: chr 2
allele count: 1
allele frequency: 1.218204853328136e-5
allele num: 82088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000387898
  ensembl transcript: ENST00000427112
  gene symbol: USP40
  hgvsc: ENST00000427112.2:c.324C>T
  hgvsp: ENST00000427112.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000251722
  ensembl transcript: ENST00000251722
  gene symbol: USP40
  hgvsc: ENST00000251722.6:c.324C>T
  hgvsp: ENST00000251722.6:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000427947
  gene symbol: USP40
  hgvsc: ENST00000427947.3:n.370C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000085982
  ensembl transcript: ENST00000484528
  gene symbol: USP40
  hgvsc: ENST00000484528.1:n.442C>T
  variant of: http://identifiers.org/hgnc/20069
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000085982
  ensembl protein: ENSP00000415434
  ensembl transcript: ENST00000450966
  gene symbol: USP40
  hgvsc: ENST00000450966.1:c.360C>T
  hgvsp: ENST00000450966.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20069
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21652
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp120Asp
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4313
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14108
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.096614368290669e-4
allele num: 9688
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.2217e1

VQSLOD
type: SiteQuality
SIO_000300: -8.191000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

DP
type: SiteQuality
SIO_000300: 2.00463e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.369e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.408e0

GenotypeQuality
all individuals: 1534
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4303
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.119014838610984e-5
allele num: 65370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.995729e6

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.22e-1

FS
type: SiteQuality
SIO_000300: 5.664e0

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

GenotypeQuality
all individuals: 197
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 889
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035411058190101e-4
allele num: 9658
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

QD
type: SiteQuality
SIO_000300: 1.491e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.76e-1

DP
type: SiteQuality
SIO_000300: 1.987335e6

GenotypeQuality
all individuals: 3346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1456
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4242
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.447125409591897e-5
allele num: 13428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.076492479931104e-4
allele num: 65026
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.962745e6

QD
type: SiteQuality
SIO_000300: 1.649e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

GenotypeQuality
all individuals: 4245
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10760
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 162
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65040
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.350176263219741e-4
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13408
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.869e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.38e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

DP
type: SiteQuality
SIO_000300: 1.957902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 10756
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12308
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550676094777323e-5
allele num: 64488
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.3e0

QD
type: SiteQuality
SIO_000300: 9.85e0

DP
type: SiteQuality
SIO_000300: 1.886629e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

GenotypeQuality
all individuals: 461
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 9.75e1
variant carriers: 153

GenotypeQuality
all individuals: 212
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 599
bin: 5.25e1
variant carriers: 2

African
type: Population
allele count: 154
allele frequency: 2.020997375328084e-2
allele num: 7620
num of homozygotes: 1

Latino
type: Population
allele count: 8
allele frequency: 1.008827238335435e-3
allele num: 7930
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47258
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.019648e6

FS
type: SiteQuality
SIO_000300: 1.014e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.066e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.0771883178929e-5
allele num: 48142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.069719e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.472e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1004
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3611
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.450980392156863e-4
allele num: 8160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.099135e6

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.219e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
all individuals: 2982
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 27034
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6824
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 3.584229390681004e-4
allele num: 8370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.209147e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 5.821e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.711e1

GenotypeQuality
all individuals: 3980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37782
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 771
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58908
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.006726457399103e-5
allele num: 14272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.360371e6

QD
type: SiteQuality
SIO_000300: 1.724e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.777e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

GenotypeQuality
all individuals: 233
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5702
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 769
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1420
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60262
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.0444323292899e-4
allele num: 14674
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.388723e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

GenotypeQuality
all individuals: 268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 342
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.78931413414172e-4
allele num: 15834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.55337392817199e-5
allele num: 64376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11116
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.2e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

DP
type: SiteQuality
SIO_000300: 1.476693e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.291e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.38e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3088
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191043353978085e-4
allele num: 8396
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.942944017170452e-5
allele num: 11182
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.008138224615e-4
allele num: 15974
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 1.485006e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

FS
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

VQSLOD
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3099
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.179245283018868e-4
allele num: 8480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

FS
type: SiteQuality
SIO_000300: 1.475e0

VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
SIO_000300: 1.145e1

DP
type: SiteQuality
SIO_000300: 1.49746e6

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3101
bin: 9.75e1
variant carriers: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.235025318019019e-4
allele num: 16194
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.336e0

DP
type: SiteQuality
SIO_000300: 1.502981e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.669e0

GenotypeQuality
all individuals: 1100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5172
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.032417922775139e-4
allele num: 9686
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.1e0

DP
type: SiteQuality
SIO_000300: 1.506452e6

MQ
type: SiteQuality
SIO_000300: 5.909e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515794579518584e-5
allele num: 65972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16332
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.992e0

DP
type: SiteQuality
SIO_000300: 1.513637e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

MQ
type: SiteQuality
SIO_000300: 6.021e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.829e1

GenotypeQuality
all individuals: 1974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 24
allele frequency: 2.80046674445741e-3
allele num: 8570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.073e0

DP
type: SiteQuality
SIO_000300: 1.517853e6

QD
type: SiteQuality
SIO_000300: 1.218e1

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeQuality
all individuals: 5339
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3117
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1517
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509433962264151e-5
allele num: 66250
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.955e0

VQSLOD
type: SiteQuality
SIO_000300: -1.125e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.948e0

DP
type: SiteQuality
SIO_000300: 1.521337e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e0

GenotypeQuality
all individuals: 45630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 450
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.438e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.845e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.527976e6

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5427
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.022704029453876e-4
allele num: 9778
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66502
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.887e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.514e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.086e0

DP
type: SiteQuality
SIO_000300: 1.529253e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e0

GenotypeQuality
all individuals: 45789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3131
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.05032560093629e-4
allele num: 66646
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: 9788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-2

DP
type: SiteQuality
SIO_000300: 1.533109e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3127
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
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

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.834e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.466e1

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.69e0

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 1.533875e6

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
all individuals: 1179
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497885993583016e-5
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

FS
type: SiteQuality
SIO_000300: 2.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

DP
type: SiteQuality
SIO_000300: 1.534816e6

QD
type: SiteQuality
SIO_000300: 1.461e1

GenotypeQuality
all individuals: 3131
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1180
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2028
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.034e1

FS
type: SiteQuality
SIO_000300: 5.175e0

VQSLOD
type: SiteQuality
SIO_000300: 8.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

DP
type: SiteQuality
SIO_000300: 1.534902e6

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

GenotypeQuality
all individuals: 3134
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49748141041017e-5
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.171e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 1.535033e6

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
all individuals: 5396
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.398441013341328e-4
allele num: 66710
num of homozygotes: 0

Other
type: Population
allele count: 5
allele frequency: 5.567928730512249e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 708
allele frequency: 8.211551844119694e-2
allele num: 8622
num of homozygotes: 28

African
type: Population
allele count: 316
allele frequency: 3.225806451612903e-2
allele num: 9796
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 143
allele frequency: 8.666666666666666e-3
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 48
allele frequency: 4.152249134948097e-3
allele num: 11560
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

FS
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.79e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.592735e6

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3547
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 45347
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

DP
type: SiteQuality
SIO_000300: 1.561638e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.585e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.603e0

FS
type: SiteQuality
SIO_000300: 1.58e0

VQSLOD
type: SiteQuality
SIO_000300: 6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.773e0

VQSLOD
type: SiteQuality
SIO_000300: -9.631e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 1.56171e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.879e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.337e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.455e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

DP
type: SiteQuality
SIO_000300: 1.561669e6

QD
type: SiteQuality
SIO_000300: 1.545e1

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 9.75e1
variant carriers: 2

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 9798
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 2.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.97e0

DP
type: SiteQuality
SIO_000300: 1.561937e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.562036e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.394e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 3547
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 3.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.562314e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

QD
type: SiteQuality
SIO_000300: 1.444e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 3548
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 466
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5511
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.95e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.532e0

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.562665e6

GenotypeQuality
all individuals: 559
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1200
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.96e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.993e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.562676e6

FS
type: SiteQuality
SIO_000300: 7.017e0

VQSLOD
type: SiteQuality
SIO_000300: 6.33e-1

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1202
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.121e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.562643e6

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3546
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5520
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.725e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.445e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.562572e6

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 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: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.216e0

FS
type: SiteQuality
SIO_000300: 3.154e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

QD
type: SiteQuality
SIO_000300: 1.638e1

DP
type: SiteQuality
SIO_000300: 1.562488e6

GenotypeQuality
all individuals: 0
bin: 1.75e1
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
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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: 9798
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.562558e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.315e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

FS
type: SiteQuality
SIO_000300: 2.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e0

QD
type: SiteQuality
SIO_000300: 7.83e0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 239

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 15
allele frequency: 1.296008294453084e-3
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 220
allele frequency: 2.245356195141866e-2
allele num: 9798
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496942079386017e-5
allele num: 66712
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 1.567585e6

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

QD
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MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

European (Finnish)
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: 9800
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.807e1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.327e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.555417e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.648e0

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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bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.555298e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

FS
type: SiteQuality
SIO_000300: 5.456e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.139999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.245e1

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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bin: 3.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

South Asian
type: Population
allele count: 15
allele frequency: 9.088705768298595e-4
allele num: 16504
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.738e0

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

DP
type: SiteQuality
SIO_000300: 1.555972e6

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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bin: 9.75e1
variant carriers: 5

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496251874062968e-5
allele num: 66700
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

DP
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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African
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East Asian
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allele count: 0
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allele num: 8624
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Latino
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

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

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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allele frequency: 0.0e0
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East Asian
type: Population
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Other
type: Population
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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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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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allele frequency: 1.159823706796567e-4
allele num: 8622
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Other
type: Population
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allele num: 892
num of homozygotes: 0

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

European (Finnish)
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allele num: 6614
num of homozygotes: 0

African
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allele count: 0
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Latino
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006343384541382e-5
allele num: 66526
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Other
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East Asian
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South Asian
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FS
type: SiteQuality
SIO_000300: 2.2057e1

ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.246e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.543804e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.914e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66456
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: 9768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.485130111524163e-4
allele num: 8608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16190
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

FS
type: SiteQuality
SIO_000300: 1.388e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

DP
type: SiteQuality
SIO_000300: 1.533349e6

GenotypeQuality
all individuals: 2008
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3403
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5281
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.071e0

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.52631e6

QD
type: SiteQuality
SIO_000300: 1.82e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
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: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16030
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.503682e6

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

FS
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.377e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

GenotypeQuality
all individuals: 1199
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3415
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66258
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.329916123019571e-4
allele num: 8584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 9
allele frequency: 5.61307222152925e-4
allele num: 16034
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.054231717337716e-4
allele num: 9736
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 4.726e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.367e1

DP
type: SiteQuality
SIO_000300: 1.501307e6

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 458
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3408
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.289308176100629e-5
allele num: 15900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 1.599e1

VQSLOD
type: SiteQuality
SIO_000300: -4.318e-1

FS
type: SiteQuality
SIO_000300: 8.423999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 1.479553e6

GenotypeQuality
all individuals: 1583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.855783237836263e-5
allele num: 20594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4250
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -9.631e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

QD
type: SiteQuality
SIO_000300: 2.345e1

FS
type: SiteQuality
SIO_000300: 8.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.22488e5

GenotypeQuality
all individuals: 163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11318
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 6.62e0

DP
type: SiteQuality
SIO_000300: 9.31632e5

GenotypeQuality
all individuals: 289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1070
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3248
bin: 9.75e1
variant carriers: 4

Other
type: Population
allele count: 1
allele frequency: 2.183406113537118e-3
allele num: 458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.106684373616645e-4
allele num: 27108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3422
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

DP
type: SiteQuality
SIO_000300: 9.60014e5

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 3.919e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

QD
type: SiteQuality
SIO_000300: 1.249e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 5.733944954128441e-4
allele num: 3488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 9.67742e5

GenotypeQuality
all individuals: 456
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 184
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1072
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2095
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13799
bin: 6.25e1
variant carriers: 1

Latino
type: Population
allele count: 12
allele frequency: 4.373177842565598e-3
allele num: 2744
num of homozygotes: 0

African
type: Population
allele count: 238
allele frequency: 4.322557210316019e-2
allele num: 5506
num of homozygotes: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 6.42994927484461e-4
allele num: 27994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

FS
type: SiteQuality
SIO_000300: 6.33e-1

DP
type: SiteQuality
SIO_000300: 9.80398e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeQuality
all individuals: 404
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3229
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2027
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.464043231259526e-5
allele num: 28868
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.696871628910464e-4
allele num: 3708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.909e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

QD
type: SiteQuality
SIO_000300: 2.708e1

DP
type: SiteQuality
SIO_000300: 9.90376e5

GenotypeQuality
all individuals: 377
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3236
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.751282743721307e-5
allele num: 29624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 8.460236886632825e-4
allele num: 9456
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.0441e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 1.002369e6

QD
type: SiteQuality
SIO_000300: 1.102e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 16695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1213
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3708
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.209036647198511e-5
allele num: 31162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.514e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: 3.66e0

DP
type: SiteQuality
SIO_000300: 1.020581e6

GenotypeQuality
all individuals: 325
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3932
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.002204850671477e-4
allele num: 9978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.17e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.062691e6

GenotypeQuality
all individuals: 3226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.15610176800345e-4
allele num: 4638
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35046
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.819e0

FS
type: SiteQuality
SIO_000300: 1.818e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.519e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.565e1

DP
type: SiteQuality
SIO_000300: 1.074787e6

GenotypeQuality
all individuals: 21016
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 706
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.308982798895732e-5
allele num: 37672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4988
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.486e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 8.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.626e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

FS
type: SiteQuality
SIO_000300: 1.4891e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.110551e6

GenotypeQuality
all individuals: 162
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
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variant carriers: 0

GenotypeQuality
all individuals: 1404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3227
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.248792777661138e-5
allele num: 38104
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4208
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 9.1e-1

FS
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.11659e6

MQRankSum
type: SiteQuality
SIO_000300: -2.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.188e0

VQSLOD
type: SiteQuality
SIO_000300: -1.663e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.485e1

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22662
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
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variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.400729821865847e-5
allele num: 41654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5774
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10784
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.160155e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.85e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24340
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3229
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variant carriers: 3

GenotypeQuality
all individuals: 891
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.721881197469072e-5
allele num: 42356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.416029453412631e-4
allele num: 7062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

FS
type: SiteQuality
SIO_000300: 7.903e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.170296e6

QD
type: SiteQuality
SIO_000300: 1.031e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 861
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43634
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7146
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.682935038707506e-4
allele num: 5942
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.218e0

DP
type: SiteQuality
SIO_000300: 1.188461e6

QD
type: SiteQuality
SIO_000300: 9.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.677e0

VQSLOD
type: SiteQuality
SIO_000300: -4.763e-1

GenotypeQuality
all individuals: 1139
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3226
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4682
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45126
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.931761343336905e-5
allele num: 11196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6176
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

QD
type: SiteQuality
SIO_000300: 7.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 425
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GenotypeQuality
all individuals: 113
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.205266175627398e-5
allele num: 45346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.866e0

FS
type: SiteQuality
SIO_000300: 1.664e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

DP
type: SiteQuality
SIO_000300: 1.213091e6

QD
type: SiteQuality
SIO_000300: 5.78e0

GenotypeQuality
all individuals: 479
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 21000
bin: 2.25e1
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GenotypeQuality
all individuals: 1538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6706
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.51e0

VQSLOD
type: SiteQuality
SIO_000300: -7.233000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 1.215217e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0