20-35835630-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835630
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835630
    reference: chr 20
allele count: 2
allele frequency: 1.653493832468005e-5
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-46T>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-46T>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-46T>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-46T>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-46T>A
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

20-35835636-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835636
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835636
    reference: chr 20
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-40G>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-40G>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-40G>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-40G>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-40G>C
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3889
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

20-35835643-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835643
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835643
    reference: chr 20
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-33A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-33A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-33A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-33A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-33A>T
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 294
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 32516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

20-35835646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835646
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835646
    reference: chr 20
allele count: 2
allele frequency: 1.652237129072764e-5
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-30A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-30A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-30A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-30A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-30A>G
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9335
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32535
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-35835647-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835647
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835645
    reference: chr 20
allele count: 1
allele frequency: 8.261185645363822e-6
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-27_595-26delAA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-27_739-26delAA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-27_316-26delAA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-27_691-26delAA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-27_220-26delAA
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: GAA
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

20-35835656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835656
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835656
    reference: chr 20
allele count: 5
allele frequency: 4.128341892762191e-5
allele num: 121114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-20G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-20G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-20G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-20G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-20G>A
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

20-35835657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835657
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835657
    reference: chr 20
allele count: 87105
allele frequency: 7.18474710482035e-1
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-19C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-19C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-19C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-19C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-19C>T
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 2.25e1
  variant carriers: 457
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 7.25e1
  variant carriers: 4563
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8406
  bin: 9.75e1
  variant carriers: 8338
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 4.25e1
  variant carriers: 2736
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 7.75e1
  variant carriers: 3637
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 4.75e1
  variant carriers: 3659
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.25e1
  variant carriers: 1178
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 1845
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 8.75e1
  variant carriers: 2250
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 5.75e1
  variant carriers: 5343
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 6.75e1
  variant carriers: 5227
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 2.75e1
  variant carriers: 702
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 9.25e1
  variant carriers: 1774
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 5.25e1
  variant carriers: 4681
genotype depth: GenotypeDepth
  all individuals: 2958
  bin: 8.25e1
  variant carriers: 2910
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 6.25e1
  variant carriers: 5556
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 7.25e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 7.75e1
  variant carriers: 169
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 56943
  bin: 9.75e1
  variant carriers: 53695
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 6.75e1
  variant carriers: 150
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 255
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 6.25e1
  variant carriers: 112
num of homozygotes: 31784
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

20-35835660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835660
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835660
    reference: chr 20
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-16T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-16T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-16T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-16T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-16T>C
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

20-35835663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835663
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835663
    reference: chr 20
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-13G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-13G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-13G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-13G>A
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-13G>A
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-35835664-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835664
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835663
    reference: chr 20
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-11delA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-11delA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-11delA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-11delA
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-11delA
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: CA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/20-35835665-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835665
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835665
    reference: chr 20
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.691-11A>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.739-11A>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.595-11A>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.220-11A>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.316-11A>C
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5923
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

20-35835677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835677
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835677
    reference: chr 20
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.596A>G
  hgvsp: ENSP00000362724.5:p.Asp199Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.221A>G
  hgvsp: ENSP00000399137.1:p.Asp74Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.692A>G
  hgvsp: ENSP00000237530.6:p.Asp231Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.317A>G
  hgvsp: ENSP00000435563.1:p.Asp106Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.740A>G
  hgvsp: ENSP00000362735.4:p.Asp247Gly
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp231Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-35835685-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835685
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835685
    reference: chr 20
allele count: 2
allele frequency: 1.648858989579211e-5
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.229A>G
  hgvsp: ENSP00000399137.1:p.Ile77Val
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.748A>G
  hgvsp: ENSP00000362735.4:p.Ile250Val
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.700A>G
  hgvsp: ENSP00000237530.6:p.Ile234Val
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.604A>G
  hgvsp: ENSP00000362724.5:p.Ile202Val
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.325A>G
  hgvsp: ENSP00000435563.1:p.Ile109Val
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6057
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5926
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5229
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55052
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile234Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

20-35835699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835699
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835699
    reference: chr 20
allele count: 13
allele frequency: 1.071864384420039e-4
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.243C>T
  hgvsp: ENST00000456102.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.714C>T
  hgvsp: ENST00000237530.6:c.714C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.618C>T
  hgvsp: ENST00000373622.5:c.618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.762C>T
  hgvsp: ENST00000373632.4:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.339C>T
  hgvsp: ENST00000462163.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5968
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn238Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

20-35835700-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835700
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835700
    reference: chr 20
allele count: 20
allele frequency: 1.648994937585542e-4
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.619G>A
  hgvsp: ENSP00000362724.5:p.Ala207Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.244G>A
  hgvsp: ENSP00000399137.1:p.Ala82Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.715G>A
  hgvsp: ENSP00000237530.6:p.Ala239Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.340G>A
  hgvsp: ENSP00000435563.1:p.Ala114Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.763G>A
  hgvsp: ENSP00000362735.4:p.Ala255Thr
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55054
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala239Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/20-35835709-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835709
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835709
    reference: chr 20
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.253A>C
  hgvsp: ENSP00000399137.1:p.Ser85Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.724A>C
  hgvsp: ENSP00000237530.6:p.Ser242Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.349A>C
  hgvsp: ENSP00000435563.1:p.Ser117Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.628A>C
  hgvsp: ENSP00000362724.5:p.Ser210Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.772A>C
  hgvsp: ENSP00000362735.4:p.Ser258Arg
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5966
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser242Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-35835717-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835717
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835717
    reference: chr 20
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.780G>C
  hgvsp: ENSP00000362735.4:p.Lys260Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.732G>C
  hgvsp: ENSP00000237530.6:p.Lys244Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.636G>C
  hgvsp: ENSP00000362724.5:p.Lys212Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.357G>C
  hgvsp: ENSP00000435563.1:p.Lys119Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.261G>C
  hgvsp: ENSP00000399137.1:p.Lys87Asn
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys244Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-35835725-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835725
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835725
    reference: chr 20
allele count: 2
allele frequency: 1.649158104787506e-5
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.365A>G
  hgvsp: ENSP00000435563.1:p.Glu122Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.740A>G
  hgvsp: ENSP00000237530.6:p.Glu247Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.269A>G
  hgvsp: ENSP00000399137.1:p.Glu90Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.644A>G
  hgvsp: ENSP00000362724.5:p.Glu215Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.788A>G
  hgvsp: ENSP00000362735.4:p.Glu263Gly
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu247Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

20-35835727-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835727
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835727
    reference: chr 20
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.646T>C
  hgvsp: ENSP00000362724.5:p.Ser216Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.790T>C
  hgvsp: ENSP00000362735.4:p.Ser264Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.367T>C
  hgvsp: ENSP00000435563.1:p.Ser123Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.271T>C
  hgvsp: ENSP00000399137.1:p.Ser91Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.742T>C
  hgvsp: ENSP00000237530.6:p.Ser248Pro
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser248Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-35835732-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835732
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835732
    reference: chr 20
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.651C>T
  hgvsp: ENST00000373622.5:c.651C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.747C>T
  hgvsp: ENST00000237530.6:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.795C>T
  hgvsp: ENST00000373632.4:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.276C>T
  hgvsp: ENST00000456102.1:c.276C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.372C>T
  hgvsp: ENST00000462163.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu249Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

20-35835735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835735
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835735
    reference: chr 20
allele count: 6
allele frequency: 4.948127133879826e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.654C>T
  hgvsp: ENST00000373622.5:c.654C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.375C>T
  hgvsp: ENST00000462163.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.750C>T
  hgvsp: ENST00000237530.6:c.750C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.279C>T
  hgvsp: ENST00000456102.1:c.279C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.798C>T
  hgvsp: ENST00000373632.4:c.798C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55054
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser250Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-35835747-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835747
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835747
    reference: chr 20
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.291C>A
  hgvsp: ENSP00000399137.1:p.Ser97Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.810C>A
  hgvsp: ENSP00000362735.4:p.Ser270Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.666C>A
  hgvsp: ENSP00000362724.5:p.Ser222Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.387C>A
  hgvsp: ENSP00000435563.1:p.Ser129Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.762C>A
  hgvsp: ENSP00000237530.6:p.Ser254Arg
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser254Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

20-35835747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835747
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835747
    reference: chr 20
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.810C>T
  hgvsp: ENST00000373632.4:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.387C>T
  hgvsp: ENST00000462163.1:c.387C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.666C>T
  hgvsp: ENST00000373622.5:c.666C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.291C>T
  hgvsp: ENST00000456102.1:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.762C>T
  hgvsp: ENST00000237530.6:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6063
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser254Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

20-35835748-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835748
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835748
    reference: chr 20
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.388G>T
  hgvsp: ENSP00000435563.1:p.Val130Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.811G>T
  hgvsp: ENSP00000362735.4:p.Val271Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.292G>T
  hgvsp: ENSP00000399137.1:p.Val98Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.763G>T
  hgvsp: ENSP00000237530.6:p.Val255Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.667G>T
  hgvsp: ENSP00000362724.5:p.Val223Leu
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val255Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

20-35835767-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835767
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835767
    reference: chr 20
allele count: 3
allele frequency: 2.475778632379884e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.311T>A
  hgvsp: ENSP00000399137.1:p.Val104Glu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.830T>A
  hgvsp: ENSP00000362735.4:p.Val277Glu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.782T>A
  hgvsp: ENSP00000237530.6:p.Val261Glu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.686T>A
  hgvsp: ENSP00000362724.5:p.Val229Glu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.407T>A
  hgvsp: ENSP00000435563.1:p.Val136Glu
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val261Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

20-35835773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835773
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835773
    reference: chr 20
allele count: 3
allele frequency: 2.476350849388341e-5
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.692C>T
  hgvsp: ENSP00000362724.5:p.Ser231Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.317C>T
  hgvsp: ENSP00000399137.1:p.Ser106Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.413C>T
  hgvsp: ENSP00000435563.1:p.Ser138Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.836C>T
  hgvsp: ENSP00000362735.4:p.Ser279Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.788C>T
  hgvsp: ENSP00000237530.6:p.Ser263Leu
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser263Leu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

20-35835774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835774
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835774
    reference: chr 20
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.789G>A
  hgvsp: ENST00000237530.6:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.693G>A
  hgvsp: ENST00000373622.5:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.837G>A
  hgvsp: ENST00000373632.4:c.837G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.414G>A
  hgvsp: ENST00000462163.1:c.414G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.318G>A
  hgvsp: ENST00000456102.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55055
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser263Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-35835780-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835780
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835780
    reference: chr 20
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.324T>C
  hgvsp: ENST00000456102.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.420T>C
  hgvsp: ENST00000462163.1:c.420T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.699T>C
  hgvsp: ENST00000373622.5:c.699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.843T>C
  hgvsp: ENST00000373632.4:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.795T>C
  hgvsp: ENST00000237530.6:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn265Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-35835781-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835781
    reference: chr 20
allele count: 3
allele frequency: 2.476718842876956e-5
allele num: 121128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.796C>A
  hgvsp: ENSP00000237530.6:p.Arg266Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.421C>A
  hgvsp: ENSP00000435563.1:p.Arg141Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.700C>A
  hgvsp: ENSP00000362724.5:p.Arg234Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.325C>A
  hgvsp: ENSP00000399137.1:p.Arg109Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.844C>A
  hgvsp: ENSP00000362735.4:p.Arg282Ser
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg266Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum

20-35835781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835781
    reference: chr 20
allele count: 30
allele frequency: 2.476718842876957e-4
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.844C>T
  hgvsp: ENSP00000362735.4:p.Arg282Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.325C>T
  hgvsp: ENSP00000399137.1:p.Arg109Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.421C>T
  hgvsp: ENSP00000435563.1:p.Arg141Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.700C>T
  hgvsp: ENSP00000362724.5:p.Arg234Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.796C>T
  hgvsp: ENSP00000237530.6:p.Arg266Cys
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  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
hgvs: p.Arg266Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

20-35835789-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835789
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835789
    reference: chr 20
allele count: 5
allele frequency: 4.128682785044259e-5
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.708C>G
  hgvsp: ENSP00000362724.5:p.His236Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.333C>G
  hgvsp: ENSP00000399137.1:p.His111Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.429C>G
  hgvsp: ENSP00000435563.1:p.His143Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.804C>G
  hgvsp: ENSP00000237530.6:p.His268Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.852C>G
  hgvsp: ENSP00000362735.4:p.His284Gln
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His268Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

20-35835789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835789
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835789
    reference: chr 20
allele count: 6
allele frequency: 4.954419342053112e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.333C>T
  hgvsp: ENST00000456102.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.708C>T
  hgvsp: ENST00000373622.5:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.852C>T
  hgvsp: ENST00000373632.4:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.429C>T
  hgvsp: ENST00000462163.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.804C>T
  hgvsp: ENST00000237530.6:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55062
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His268His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-35835790-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835790
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835790
    reference: chr 20
allele count: 5
allele frequency: 4.129091930102732e-5
allele num: 121092
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.805G>A
  hgvsp: ENSP00000237530.6:p.Val269Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.853G>A
  hgvsp: ENSP00000362735.4:p.Val285Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.430G>A
  hgvsp: ENSP00000435563.1:p.Val144Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.334G>A
  hgvsp: ENSP00000399137.1:p.Val112Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.709G>A
  hgvsp: ENSP00000362724.5:p.Val237Met
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55061
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val269Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

20-35835804-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835804
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835804
    reference: chr 20
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.723T>G
  hgvsp: ENST00000373622.5:c.723T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.867T>G
  hgvsp: ENST00000373632.4:c.867T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.348T>G
  hgvsp: ENST00000456102.1:c.348T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.819T>G
  hgvsp: ENST00000237530.6:c.819T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.444T>G
  hgvsp: ENST00000462163.1:c.444T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val273Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

20-35835805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835805
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835805
    reference: chr 20
allele count: 3
allele frequency: 2.478929102627665e-5
allele num: 121020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.868G>A
  hgvsp: ENSP00000362735.4:p.Val290Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.820G>A
  hgvsp: ENSP00000237530.6:p.Val274Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.349G>A
  hgvsp: ENSP00000399137.1:p.Val117Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.445G>A
  hgvsp: ENSP00000435563.1:p.Val149Met
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.724G>A
  hgvsp: ENSP00000362724.5:p.Val242Met
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4973
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55061
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val274Met
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

20-35835814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835814
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835814
    reference: chr 20
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.877G>A
  hgvsp: ENSP00000362735.4:p.Gly293Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.829G>A
  hgvsp: ENSP00000237530.6:p.Gly277Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.454G>A
  hgvsp: ENSP00000435563.1:p.Gly152Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.358G>A
  hgvsp: ENSP00000399137.1:p.Gly120Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.733G>A
  hgvsp: ENSP00000362724.5:p.Gly245Ser
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4972
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5965
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55062
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly277Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP

20-35835817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835817
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835817
    reference: chr 20
allele count: 7
allele frequency: 5.787611204815293e-5
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.457T>C
  hgvsp: ENSP00000435563.1:p.Ser153Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.832T>C
  hgvsp: ENSP00000237530.6:p.Ser278Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.880T>C
  hgvsp: ENSP00000362735.4:p.Ser294Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.736T>C
  hgvsp: ENSP00000362724.5:p.Ser246Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.361T>C
  hgvsp: ENSP00000399137.1:p.Ser121Pro
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55063
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser278Pro
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-35835823-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835823
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835823
    reference: chr 20
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.463T>G
  hgvsp: ENSP00000435563.1:p.Ser155Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.367T>G
  hgvsp: ENSP00000399137.1:p.Ser123Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.886T>G
  hgvsp: ENSP00000362735.4:p.Ser296Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.742T>G
  hgvsp: ENSP00000362724.5:p.Ser248Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.838T>G
  hgvsp: ENSP00000237530.6:p.Ser280Ala
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4970
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser280Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-35835825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835825
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835825
    reference: chr 20
allele count: 9
allele frequency: 7.444291882413273e-5
allele num: 120898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.840C>T
  hgvsp: ENST00000237530.6:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.465C>T
  hgvsp: ENST00000462163.1:c.465C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.744C>T
  hgvsp: ENST00000373622.5:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.369C>T
  hgvsp: ENST00000456102.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.888C>T
  hgvsp: ENST00000373632.4:c.888C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6081
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5792
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4969
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser280Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD

20-35835826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835826
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835826
    reference: chr 20
allele count: 1566
allele frequency: 1.295628288711652e-2
allele num: 120868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.889G>A
  hgvsp: ENSP00000362735.4:p.Asp297Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.466G>A
  hgvsp: ENSP00000435563.1:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.841G>A
  hgvsp: ENSP00000237530.6:p.Asp281Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.745G>A
  hgvsp: ENSP00000362724.5:p.Asp249Asn
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.370G>A
  hgvsp: ENSP00000399137.1:p.Asp124Asn
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 9.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4826
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 6.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 9.75e1
  variant carriers: 1359
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 7.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp281Asn
num of homozygotes: 19
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-35835830-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835830
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835830
    reference: chr 20
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.470C>G
  hgvsp: ENSP00000435563.1:p.Thr157Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.749C>G
  hgvsp: ENSP00000362724.5:p.Thr250Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.893C>G
  hgvsp: ENSP00000362735.4:p.Thr298Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.374C>G
  hgvsp: ENSP00000399137.1:p.Thr125Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.845C>G
  hgvsp: ENSP00000237530.6:p.Thr282Ser
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr282Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

20-35835834-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835834
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835834
    reference: chr 20
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.897T>A
  hgvsp: ENSP00000362735.4:p.His299Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.753T>A
  hgvsp: ENSP00000362724.5:p.His251Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.849T>A
  hgvsp: ENSP00000237530.6:p.His283Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.378T>A
  hgvsp: ENSP00000399137.1:p.His126Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.474T>A
  hgvsp: ENSP00000435563.1:p.His158Gln
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His283Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

20-35835837-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835837
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835837
    reference: chr 20
allele count: 1
allele frequency: 8.278831029058698e-6
allele num: 120790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.381A>G
  hgvsp: ENST00000456102.1:c.381A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.852A>G
  hgvsp: ENST00000237530.6:c.852A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000435563
  ensembl transcript: ENST00000462163
  gene symbol: RPN2
  hgvsc: ENST00000462163.1:c.477A>G
  hgvsp: ENST00000462163.1:c.477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.900A>G
  hgvsp: ENST00000373632.4:c.900A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.756A>G
  hgvsp: ENST00000373622.5:c.756A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu284Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

20-35835849-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835849
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835849
    reference: chr 20
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.768G>C
  hgvsp: ENSP00000362724.5:p.Leu256Phe
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.912G>C
  hgvsp: ENSP00000362735.4:p.Leu304Phe
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.864G>C
  hgvsp: ENSP00000237530.6:p.Leu288Phe
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.393G>C
  hgvsp: ENSP00000399137.1:p.Leu131Phe
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu288Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/20-35835850-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835850
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835850
    reference: chr 20
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.865C>A
  hgvsp: ENST00000237530.6:c.865C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.913C>A
  hgvsp: ENST00000373632.4:c.913C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.769C>A
  hgvsp: ENST00000373622.5:c.769C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.394C>A
  hgvsp: ENST00000456102.1:c.394C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55097
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 6.75e1
  variant carriers: 0
hgvs: c.865C>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

20-35835850-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835850
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835850
    reference: chr 20
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.394C>T
  hgvsp: ENSP00000399137.1:p.Arg132Trp
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.913C>T
  hgvsp: ENSP00000362735.4:p.Arg305Trp
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.769C>T
  hgvsp: ENSP00000362724.5:p.Arg257Trp
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.865C>T
  hgvsp: ENSP00000237530.6:p.Arg289Trp
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg289Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

20-35835851-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835851
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835851
    reference: chr 20
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.914G>A
  hgvsp: ENSP00000362735.4:p.Arg305Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.866G>A
  hgvsp: ENSP00000237530.6:p.Arg289Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.770G>A
  hgvsp: ENSP00000362724.5:p.Arg257Gln
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.395G>A
  hgvsp: ENSP00000399137.1:p.Arg132Gln
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6307
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg289Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-35835852-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835852
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835852
    reference: chr 20
allele count: 2
allele frequency: 1.657330372236402e-5
allele num: 120676
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.867G>A
  hgvsp: ENST00000237530.6:c.867G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.396G>A
  hgvsp: ENST00000456102.1:c.396G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.771G>A
  hgvsp: ENST00000373622.5:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.915G>A
  hgvsp: ENST00000373632.4:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55099
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
hgvs: c.867G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

20-35835864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835864
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835864
    reference: chr 20
allele count: 18
allele frequency: 1.492289835848118e-4
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.867+12A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.771+12A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.396+12A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.915+12A>G
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4423
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6319
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55099
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-35835881-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835881
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835881
    reference: chr 20
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.396+29C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.915+29C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.867+29C>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.771+29C>T
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5895
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4424
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55094
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-35835889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835889
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835889
    reference: chr 20
allele count: 89697
allele frequency: 7.447442710063102e-1
allele num: 120440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.396+37A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.867+37A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.915+37A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.771+37A>G
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 8.25e1
  variant carriers: 5052
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 2748
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 7.75e1
  variant carriers: 4988
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 16891
  bin: 9.75e1
  variant carriers: 16817
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 7.25e1
  variant carriers: 4804
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 5.25e1
  variant carriers: 1945
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 3586
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 718
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 311
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 1171
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 438
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 9.25e1
  variant carriers: 3956
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 6.75e1
  variant carriers: 4141
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 8.75e1
  variant carriers: 4617
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 111
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 58065
  bin: 9.75e1
  variant carriers: 55262
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 62
num of homozygotes: 33977
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-35835889-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835889
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835889
    reference: chr 20
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.867+37A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.771+37A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.396+37A>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.915+37A>T
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3982
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-35835899-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35835899
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35835900
    reference: chr 20
allele count: 1
allele frequency: 8.316008316008316e-6
allele num: 120250
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.771+48dupT
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.915+48dupT
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.396+48dupT
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.867+48dupT
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
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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 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: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 52909
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 152
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 692
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-35838399-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838399
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838399
    reference: chr 20
allele count: 1
allele frequency: 8.431561019207096e-6
allele num: 118602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.916-51C>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.868-51C>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.772-51C>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.397-51C>G
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

20-35838408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838408
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838408
    reference: chr 20
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.868-42T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.397-42T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.916-42T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.772-42T>C
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12948
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5963
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 532
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17940
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-35838412-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838412
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838412
    reference: chr 20
allele count: 1
allele frequency: 8.413400864897609e-6
allele num: 118858
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.868-38G>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.772-38G>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.916-38G>T
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.397-38G>T
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17974
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12711
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

20-35838428-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838428
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838428
    reference: chr 20
allele count: 1
allele frequency: 8.35952651641811e-6
allele num: 119624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.916-22A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.772-22A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.397-22A>G
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.868-22A>G
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3451
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-35838435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838435
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838435
    reference: chr 20
allele count: 5
allele frequency: 4.171533455698315e-5
allele num: 119860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.772-15T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.397-15T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.916-15T>C
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.868-15T>C
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4870
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

20-35838455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838455
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838455
    reference: chr 20
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.402A>G
  hgvsp: ENST00000456102.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.777A>G
  hgvsp: ENST00000373622.5:c.777A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.921A>G
  hgvsp: ENST00000373632.4:c.921A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.873A>G
  hgvsp: ENST00000237530.6:c.873A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18147
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln291Gln
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

20-35838457-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838457
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838457
    reference: chr 20
allele count: 25
allele frequency: 2.065296411340956e-4
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.923T>C
  hgvsp: ENSP00000362735.4:p.Val308Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.404T>C
  hgvsp: ENSP00000399137.1:p.Val135Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.779T>C
  hgvsp: ENSP00000362724.5:p.Val260Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.875T>C
  hgvsp: ENSP00000237530.6:p.Val292Ala
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3522
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val292Ala
num of homozygotes: 1
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

20-35838458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838458
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838458
    reference: chr 20
allele count: 8
allele frequency: 6.60774758404229e-5
allele num: 121070
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.876C>T
  hgvsp: ENST00000237530.6:c.876C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.780C>T
  hgvsp: ENST00000373622.5:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.924C>T
  hgvsp: ENST00000373632.4:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.405C>T
  hgvsp: ENST00000456102.1:c.405C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18170
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val292Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

20-35838463-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838463
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838463
    reference: chr 20
allele count: 3
allele frequency: 2.475901228047009e-5
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.881A>G
  hgvsp: ENSP00000237530.6:p.Asn294Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.785A>G
  hgvsp: ENSP00000362724.5:p.Asn262Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.410A>G
  hgvsp: ENSP00000399137.1:p.Asn137Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.929A>G
  hgvsp: ENSP00000362735.4:p.Asn310Ser
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16586
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18173
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn294Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-35838465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838465
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838465
    reference: chr 20
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.931G>A
  hgvsp: ENSP00000362735.4:p.Val311Ile
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.883G>A
  hgvsp: ENSP00000237530.6:p.Val295Ile
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.787G>A
  hgvsp: ENSP00000362724.5:p.Val263Ile
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.412G>A
  hgvsp: ENSP00000399137.1:p.Val138Ile
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4892
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18174
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val295Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-35838468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838468
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838468
    reference: chr 20
allele count: 3
allele frequency: 2.474716644944154e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.415C>T
  hgvsp: ENST00000456102.1:c.415C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.934C>T
  hgvsp: ENST00000373632.4:c.934C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.886C>T
  hgvsp: ENST00000237530.6:c.886C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.790C>T
  hgvsp: ENST00000373622.5:c.790C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15687
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18176
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3524
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6598
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu296Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

20-35838484-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838484
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838484
    reference: chr 20
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.806C>G
  hgvsp: ENSP00000362724.5:p.Thr269Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.950C>G
  hgvsp: ENSP00000362735.4:p.Thr317Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.431C>G
  hgvsp: ENSP00000399137.1:p.Thr144Ser
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.902C>G
  hgvsp: ENSP00000237530.6:p.Thr301Ser
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18180
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr301Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-35838487-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838487
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838487
    reference: chr 20
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.953A>C
  hgvsp: ENSP00000362735.4:p.Gln318Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.809A>C
  hgvsp: ENSP00000362724.5:p.Gln270Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.905A>C
  hgvsp: ENSP00000237530.6:p.Gln302Pro
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.434A>C
  hgvsp: ENSP00000399137.1:p.Gln145Pro
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3527
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4900
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln302Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

20-35838492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838492
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838492
    reference: chr 20
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.910A>G
  hgvsp: ENSP00000237530.6:p.Thr304Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.814A>G
  hgvsp: ENSP00000362724.5:p.Thr272Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.958A>G
  hgvsp: ENSP00000362735.4:p.Thr320Ala
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.439A>G
  hgvsp: ENSP00000399137.1:p.Thr147Ala
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18182
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5467
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15758
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr304Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ

20-35838493-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838493
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838493
    reference: chr 20
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.815C>T
  hgvsp: ENSP00000362724.5:p.Thr272Ile
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.959C>T
  hgvsp: ENSP00000362735.4:p.Thr320Ile
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.440C>T
  hgvsp: ENSP00000399137.1:p.Thr147Ile
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.911C>T
  hgvsp: ENSP00000237530.6:p.Thr304Ile
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18184
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr304Ile
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-35838517-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838517
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838517
    reference: chr 20
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.983C>G
  hgvsp: ENSP00000362735.4:p.Ser328Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.935C>G
  hgvsp: ENSP00000237530.6:p.Ser312Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.839C>G
  hgvsp: ENSP00000362724.5:p.Ser280Cys
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.464C>G
  hgvsp: ENSP00000399137.1:p.Ser155Cys
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15771
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18187
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser312Cys
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

20-35838528-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838528
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838528
    reference: chr 20
allele count: 4
allele frequency: 3.295327225993541e-5
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.475A>G
  hgvsp: ENSP00000399137.1:p.Arg159Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.946A>G
  hgvsp: ENSP00000237530.6:p.Arg316Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.994A>G
  hgvsp: ENSP00000362735.4:p.Arg332Gly
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.850A>G
  hgvsp: ENSP00000362724.5:p.Arg284Gly
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18191
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg316Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

20-35838531-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838531
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838531
    reference: chr 20
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.949G>A
  hgvsp: ENSP00000237530.6:p.Ala317Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.853G>A
  hgvsp: ENSP00000362724.5:p.Ala285Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.478G>A
  hgvsp: ENSP00000399137.1:p.Ala160Thr
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.997G>A
  hgvsp: ENSP00000362735.4:p.Ala333Thr
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6613
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala317Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

20-35838533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838533
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838533
    reference: chr 20
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.999C>T
  hgvsp: ENST00000373632.4:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.480C>T
  hgvsp: ENST00000456102.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.855C>T
  hgvsp: ENST00000373622.5:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.951C>T
  hgvsp: ENST00000237530.6:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala317Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

20-35838544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838544
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838544
    reference: chr 20
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000399137
  ensembl transcript: ENST00000456102
  gene symbol: RPN2
  hgvsc: ENST00000456102.1:c.491A>G
  hgvsp: ENSP00000399137.1:p.Gln164Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.866A>G
  hgvsp: ENSP00000362724.5:p.Gln289Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.1010A>G
  hgvsp: ENSP00000362735.4:p.Gln337Arg
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.962A>G
  hgvsp: ENSP00000237530.6:p.Gln321Arg
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5463
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln321Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

20-35838557-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35838557
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 35838557
    reference: chr 20
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362735
  ensembl transcript: ENST00000373632
  gene symbol: RPN2
  hgvsc: ENST00000373632.4:c.1023C>G
  hgvsp: ENSP00000362735.4:p.Phe341Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000362724
  ensembl transcript: ENST00000373622
  gene symbol: RPN2
  hgvsc: ENST00000373622.5:c.879C>G
  hgvsp: ENSP00000362724.5:p.Phe293Leu
  variant of: http://identifiers.org/hgnc/10382
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000118705
  ensembl protein: ENSP00000237530
  ensembl transcript: ENST00000237530
  gene symbol: RPN2
  hgvsc: ENST00000237530.6:c.975C>G
  hgvsp: ENSP00000237530.6:p.Phe325Leu
  variant of: http://identifiers.org/hgnc/10382
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3603
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18195
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15623
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe325Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

GenotypeQuality
all individuals: 737
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32369
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3625
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 7.47e0

DP
type: SiteQuality
SIO_000300: 2.435544e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.033e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.64e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4136
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.340000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.443542e6

FS
type: SiteQuality
SIO_000300: 5.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.22e-1

QD
type: SiteQuality
SIO_000300: 7.99e0

GenotypeQuality
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66508
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.337e1

VQSLOD
type: SiteQuality
SIO_000300: -6.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.376e0

FS
type: SiteQuality
SIO_000300: 1.647e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.777e0

DP
type: SiteQuality
SIO_000300: 2.45397e6

GenotypeQuality
all individuals: 4268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2434
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
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: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.456663e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.148e0

MQRankSum
type: SiteQuality
SIO_000300: 9.84e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 7.328e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 2436
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 10324
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

DP
type: SiteQuality
SIO_000300: 2.457335e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 1.694e1

GenotypeQuality
all individuals: 3840
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32555
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4052
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

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

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

African
type: Population
allele count: 5
allele frequency: 4.834654805646877e-4
allele num: 10342
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.575e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

DP
type: SiteQuality
SIO_000300: 2.46198e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.426e1

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 16

GenotypeQuality
all individuals: 121
bin: 5.25e1
variant carriers: 109

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 56

GenotypeQuality
all individuals: 604
bin: 9.25e1
variant carriers: 277

East Asian
type: Population
allele count: 4052
allele frequency: 4.695249130938586e-1
allele num: 8630
num of homozygotes: 930

South Asian
type: Population
allele count: 11930
allele frequency: 7.229426736153194e-1
allele num: 16502
num of homozygotes: 4343

European (Finnish)
type: Population
allele count: 4177
allele frequency: 6.317301875378101e-1
allele num: 6612
num of homozygotes: 1339

Latino
type: Population
allele count: 7483
allele frequency: 6.484402079722703e-1
allele num: 11540
num of homozygotes: 2474

African
type: Population
allele count: 7555
allele frequency: 7.279822701869338e-1
allele num: 10378
num of homozygotes: 2763

European (Non-Finnish)
type: Population
allele count: 51229
allele frequency: 7.684196316073678e-1
allele num: 66668
num of homozygotes: 19678

Other
type: Population
allele count: 679
allele frequency: 7.494481236203091e-1
allele num: 906
num of homozygotes: 257

QD
type: SiteQuality
SIO_000300: 2.471e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.497e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 2.443e0

DP
type: SiteQuality
SIO_000300: 4.127589e6

GenotypeQuality
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55044
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 10370
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.118e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 5.012e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 5.898e1

QD
type: SiteQuality
SIO_000300: 1.237e1

DP
type: SiteQuality
SIO_000300: 4.031495e6

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

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

GenotypeQuality
all individuals: 925
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 11574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.551e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

QD
type: SiteQuality
SIO_000300: 1.496e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.08e-1

DP
type: SiteQuality
SIO_000300: 4.0318e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

GenotypeQuality
all individuals: 570
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55045
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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: 66674
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

MQ
type: SiteQuality
SIO_000300: 6.051e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.36e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.21e-1

FS
type: SiteQuality
SIO_000300: 3.874e0

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

DP
type: SiteQuality
SIO_000300: 4.031928e6

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

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

GenotypeQuality
all individuals: 409
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55048
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.031919e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

FS
type: SiteQuality
SIO_000300: 7.789e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 683
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 807
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55051
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
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: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 1.459e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.048e0

DP
type: SiteQuality
SIO_000300: 4.032802e6

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.591e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.875e0

DP
type: SiteQuality
SIO_000300: 4.033417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 1.427e1

VQSLOD
type: SiteQuality
SIO_000300: -2.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

GenotypeQuality
all individuals: 805
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55055
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

East Asian
type: Population
allele count: 11
allele frequency: 1.271382339343504e-3
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 4.034546e6

FS
type: SiteQuality
SIO_000300: 1.871e0

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.373e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

GenotypeQuality
all individuals: 665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049916006719462e-4
allele num: 66672
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
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: 906
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.650646593321752e-5
allele num: 10362
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: 11
allele frequency: 6.664243305464679e-4
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.152e0

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
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DP
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.49e-2

MQ
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SIO_000300: 5.977e1

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
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FS
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.095e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.500720115218435e-5
allele num: 66656
num of homozygotes: 0

African
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allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
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DP
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FS
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66654
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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ClippingRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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QD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele num: 906
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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African
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allele count: 0
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

Other
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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num of homozygotes: 0

African
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allele frequency: 2.904162633107454e-4
allele num: 10330
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DP
type: SiteQuality
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QD
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FS
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.50154659299078e-5
allele num: 66598
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.6e-2

DP
type: SiteQuality
SIO_000300: 4.034833e6

FS
type: SiteQuality
SIO_000300: 2.539e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.2e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

QD
type: SiteQuality
SIO_000300: 1.362e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 0
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
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: 10326
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.229e0

QD
type: SiteQuality
SIO_000300: 1.397e1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 4.034816e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 10324
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: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 2.159e0

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 4.034605e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.73e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 582
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.595604775912787e-4
allele num: 11558
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

QD
type: SiteQuality
SIO_000300: 1.3e1

DP
type: SiteQuality
SIO_000300: 4.037079e6

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 30

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 419
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 16
allele frequency: 1.850566736062919e-3
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.453884377651194e-4
allele num: 16502
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.50558692779046e-5
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e0

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.037079e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 209
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.326007959854646e-4
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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
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SIO_000300: 4.035583e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.393e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 40
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.906976744186046e-4
allele num: 10320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.393e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Finnish)
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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: 10316
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.424536307431204e-4
allele num: 16498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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allele num: 8646
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.48e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.035038e6

InbreedingCoeff
type: SiteQuality
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
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allele num: 902
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South Asian
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allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66520
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10302
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

QD
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
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DP
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VQSLOD
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.706853038245001e-5
allele num: 10302
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.007066606525334e-5
allele num: 66510
num of homozygotes: 0

DP
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
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allele num: 11554
num of homozygotes: 0

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66490
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
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MQRankSum
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MQ
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FS
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 642
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.062705698943357e-4
allele num: 11546
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.104e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

DP
type: SiteQuality
SIO_000300: 4.033746e6

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55062
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.3874e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.032955e6

VQSLOD
type: SiteQuality
SIO_000300: -3.384e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

GenotypeQuality
all individuals: 349
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55063
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 582
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 639
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.72951936174353e-5
allele num: 10278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.203948952564411e-4
allele num: 66448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 4.033458e6

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.214e1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55168
bin: 9.75e1
variant carriers: 1545

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 108
allele frequency: 9.360374414976599e-3
allele num: 11538
num of homozygotes: 1

South Asian
type: Population
allele count: 104
allele frequency: 6.310679611650485e-3
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 2.630040911747516e-3
allele num: 10266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 158
allele frequency: 2.389594676346038e-2
allele num: 6612
num of homozygotes: 2

Other
type: Population
allele count: 17
allele frequency: 1.88470066518847e-2
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1152
allele frequency: 1.734051840924828e-2
allele num: 66434
num of homozygotes: 16

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.279e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.73e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 4.159385e6

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55095
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 4.057088e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.971e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-3

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.23e-1

GenotypeQuality
all individuals: 631
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.962e0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

DP
type: SiteQuality
SIO_000300: 4.056636e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

FS
type: SiteQuality
SIO_000300: 1.2127e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1045
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55096
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.387e0

QD
type: SiteQuality
SIO_000300: 1.311e1

DP
type: SiteQuality
SIO_000300: 4.056476e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.95e0

FS
type: SiteQuality
SIO_000300: 2.1883e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 791
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.775171065493646e-5
allele num: 10230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.793e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

DP
type: SiteQuality
SIO_000300: 4.055185e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.519e0

VQSLOD
type: SiteQuality
SIO_000300: -8.818e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.213e0

QD
type: SiteQuality
SIO_000300: 1.68e1

GenotypeQuality
all individuals: 794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.269e1

DP
type: SiteQuality
SIO_000300: 4.055201e6

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 3.674e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.75e1
variant carriers: 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: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 3.674e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.055201e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55097
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 6.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507386192342478e-5
allele num: 66340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.05495e6

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
SIO_000300: 2.258e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

GenotypeQuality
all individuals: 626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 6.25e1
variant carriers: 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: 10218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507613447911955e-5
allele num: 66330
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.054929e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.437e0

QD
type: SiteQuality
SIO_000300: 1.066e1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 17
allele frequency: 1.666339933346403e-3
allele num: 10202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.680555555555556e-5
allele num: 11520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.178e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 4.055232e6

QD
type: SiteQuality
SIO_000300: 1.323e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
all individuals: 580
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509753004408479e-5
allele num: 66236
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.619e1

QD
type: SiteQuality
SIO_000300: 2.228e1

DP
type: SiteQuality
SIO_000300: 4.053614e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.749e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.301e0

GenotypeQuality
all individuals: 358
bin: 9.25e1
variant carriers: 72

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 39

GenotypeQuality
all individuals: 221
bin: 8.75e1
variant carriers: 37

South Asian
type: Population
allele count: 12107
allele frequency: 7.358983710187211e-1
allele num: 16452
num of homozygotes: 4480

European (Finnish)
type: Population
allele count: 4356
allele frequency: 6.59400544959128e-1
allele num: 6606
num of homozygotes: 1456

African
type: Population
allele count: 7913
allele frequency: 7.782258064516129e-1
allele num: 10168
num of homozygotes: 3091

East Asian
type: Population
allele count: 4042
allele frequency: 4.713152985074627e-1
allele num: 8576
num of homozygotes: 929

Latino
type: Population
allele count: 7620
allele frequency: 6.6295458500087e-1
allele num: 11494
num of homozygotes: 2582

European (Non-Finnish)
type: Population
allele count: 52960
allele frequency: 7.994927689381359e-1
allele num: 66242
num of homozygotes: 21163

Other
type: Population
allele count: 699
allele frequency: 7.749445676274944e-1
allele num: 902
num of homozygotes: 276

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

QD
type: SiteQuality
SIO_000300: 2.904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

DP
type: SiteQuality
SIO_000300: 5.024009e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 5.024009e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.53e0

QD
type: SiteQuality
SIO_000300: 2.904e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 1300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51308821304282e-5
allele num: 66090
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 3.948078e6

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 2.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.61e-1

GenotypeQuality
all individuals: 2392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2295
bin: 8.75e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531721961829489e-5
allele num: 65286
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.436e1

DP
type: SiteQuality
SIO_000300: 2.07012e6

GenotypeQuality
all individuals: 2369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11124
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
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: 6570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.073e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

DP
type: SiteQuality
SIO_000300: 2.096566e6

GenotypeQuality
all individuals: 931
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4553
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.110273e6

FS
type: SiteQuality
SIO_000300: 7.394e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

QD
type: SiteQuality
SIO_000300: 1.628e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.715e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 2.14741e6

QD
type: SiteQuality
SIO_000300: 1.653e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

VQSLOD
type: SiteQuality
SIO_000300: -1.118e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18126
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2568
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.056935190793458e-5
allele num: 66040
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

DP
type: SiteQuality
SIO_000300: 2.152878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

QD
type: SiteQuality
SIO_000300: 1.37e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeQuality
all individuals: 5456
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6583
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variant carriers: 0

GenotypeQuality
all individuals: 4892
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GenotypeQuality
all individuals: 3517
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.77e0

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
SIO_000300: 3.182e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 2.167077e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

GenotypeQuality
all individuals: 3601
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18167
bin: 9.75e1
variant carriers: 24

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

East Asian
type: Population
allele count: 24
allele frequency: 2.798507462686567e-3
allele num: 8576
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.281e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.1e-2

DP
type: SiteQuality
SIO_000300: 2.169003e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.439e1

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

GenotypeQuality
all individuals: 3518
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4890
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.326183259501049e-4
allele num: 8578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.16984e6

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.198e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.061e0

QD
type: SiteQuality
SIO_000300: 1.11e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000660145231951e-5
allele num: 66652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

FS
type: SiteQuality
SIO_000300: 4.755e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.591e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.170735e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

FS
type: SiteQuality
SIO_000300: 4.83e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.689e0

DP
type: SiteQuality
SIO_000300: 2.171259e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
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: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.013e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.561e0

DP
type: SiteQuality
SIO_000300: 2.171606e6

FS
type: SiteQuality
SIO_000300: 5.279e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.27e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
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

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: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.415e0

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.173117e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.75e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15746
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.799e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: -1.195e0

DP
type: SiteQuality
SIO_000300: 2.173329e6

QD
type: SiteQuality
SIO_000300: 1.482e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.327e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4902
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 66714
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.173684e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.326000000000001e0

DP
type: SiteQuality
SIO_000300: 2.173898e6

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.622e1

DP
type: SiteQuality
SIO_000300: 2.174491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 2.174881e6

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
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
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 5463
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.269e0

MQRankSum
type: SiteQuality
SIO_000300: -1.255e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 2.175005e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.335e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15728
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4907
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 1.136e1

DP
type: SiteQuality
SIO_000300: 2.174797e6

GenotypeQuality
all individuals: 2582
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.174158e6

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.414e1

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0