21-43833217-CCTCTGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833217
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833211
    reference: chr 21
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.444_449delGGCTCT
  hgvsp: ENSP00000291535.6:p.Ala149_Leu150del
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.473_478delGGCTCT
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.444_449delGGCTCT
  hgvsp: ENSP00000381408.1:p.Ala149_Leu150del
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.444_449delGGCTCT
  hgvsp: ENSP00000317327.6:p.Ala149_Leu150del
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10122
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala149_Leu150del
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: CCTCTGG
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-43833228-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833228
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833228
    reference: chr 21
allele count: 1822
allele frequency: 1.501169956826945e-2
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.450C>A
  hgvsp: ENST00000398367.1:c.450C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.450C>A
  hgvsp: ENST00000319294.6:c.450C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.450C>A
  hgvsp: ENST00000291535.6:c.450C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.479C>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 9.75e1
  variant carriers: 1337
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 8036
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 19155
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 14216
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 4251
  bin: 4.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1744
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10309
  bin: 9.75e1
  variant carriers: 1795
genotype quality: GenotypeQuality
  all individuals: 8756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu150Leu
num of homozygotes: 24
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-43833230-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833230
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833230
    reference: chr 21
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.452A>C
  hgvsp: ENSP00000291535.6:p.His151Pro
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.481A>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.452A>C
  hgvsp: ENSP00000381408.1:p.His151Pro
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.452A>C
  hgvsp: ENSP00000317327.6:p.His151Pro
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His151Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

21-43833249-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833249
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833249
    reference: chr 21
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.471C>T
  hgvsp: ENST00000398367.1:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.500C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.471C>T
  hgvsp: ENST00000319294.6:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.471C>T
  hgvsp: ENST00000291535.6:c.471C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu157Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

21-43833258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833258
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833258
    reference: chr 21
allele count: 3
allele frequency: 2.471943441934048e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.509C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.480C>T
  hgvsp: ENST00000398367.1:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.480C>T
  hgvsp: ENST00000319294.6:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.480C>T
  hgvsp: ENST00000291535.6:c.480C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8848
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe160Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-43833259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833259
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833259
    reference: chr 21
allele count: 9
allele frequency: 7.415952537903758e-5
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.510G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.481G>A
  hgvsp: ENSP00000317327.6:p.Val161Ile
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.481G>A
  hgvsp: ENSP00000381408.1:p.Val161Ile
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.481G>A
  hgvsp: ENSP00000291535.6:p.Val161Ile
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val161Ile
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

21-43833270-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833270
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833270
    reference: chr 21
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.492C>G
  hgvsp: ENSP00000291535.6:p.Ser164Arg
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.492C>G
  hgvsp: ENSP00000381408.1:p.Ser164Arg
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.492C>G
  hgvsp: ENSP00000317327.6:p.Ser164Arg
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.521C>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19685
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4430
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25203
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8978
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser164Arg
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD

21-43833272-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833272
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833272
    reference: chr 21
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.494C>T
  hgvsp: ENSP00000381408.1:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.523C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.494C>T
  hgvsp: ENSP00000291535.6:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.494C>T
  hgvsp: ENSP00000317327.6:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14801
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25427
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro165Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

21-43833273-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833273
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833273
    reference: chr 21
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.495C>T
  hgvsp: ENST00000319294.6:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.524C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.495C>T
  hgvsp: ENST00000398367.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.495C>T
  hgvsp: ENST00000291535.6:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8530
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25443
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro165Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

21-43833274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833274
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833274
    reference: chr 21
allele count: 6
allele frequency: 4.944701752072654e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.496G>A
  hgvsp: ENSP00000291535.6:p.Ala166Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.525G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.496G>A
  hgvsp: ENSP00000317327.6:p.Ala166Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.496G>A
  hgvsp: ENSP00000381408.1:p.Ala166Thr
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14795
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  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: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25441
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala166Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

21-43833280-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833280
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833280
    reference: chr 21
allele count: 55
allele frequency: 4.53212037311711e-4
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.502G>A
  hgvsp: ENSP00000291535.6:p.Val168Ile
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.502G>A
  hgvsp: ENSP00000317327.6:p.Val168Ile
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.531G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.502G>A
  hgvsp: ENSP00000381408.1:p.Val168Ile
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25461
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8527
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9053
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val168Ile
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-43833286-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833286
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833286
    reference: chr 21
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.508C>A
  hgvsp: ENST00000319294.6:c.508C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.508C>A
  hgvsp: ENST00000398367.1:c.508C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.508C>A
  hgvsp: ENST00000291535.6:c.508C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.537C>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg170Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

21-43833286-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833286
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833286
    reference: chr 21
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.508C>G
  hgvsp: ENSP00000317327.6:p.Arg170Gly
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.508C>G
  hgvsp: ENSP00000291535.6:p.Arg170Gly
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.508C>G
  hgvsp: ENSP00000381408.1:p.Arg170Gly
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.537C>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg170Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP

21-43833286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833286
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833286
    reference: chr 21
allele count: 4
allele frequency: 3.296576505299247e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.508C>T
  hgvsp: ENSP00000291535.6:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.508C>T
  hgvsp: ENSP00000317327.6:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.508C>T
  hgvsp: ENSP00000381408.1:p.Arg170Trp
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.537C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8476
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg170Trp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS

21-43833287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833287
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833287
    reference: chr 21
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.509G>A
  hgvsp: ENSP00000381408.1:p.Arg170Gln
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.509G>A
  hgvsp: ENSP00000317327.6:p.Arg170Gln
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.509G>A
  hgvsp: ENSP00000291535.6:p.Arg170Gln
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.538G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14815
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8469
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg170Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

21-43833294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833294
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833294
    reference: chr 21
allele count: 5
allele frequency: 4.120584793393878e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.516C>T
  hgvsp: ENST00000398367.1:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.516C>T
  hgvsp: ENST00000291535.6:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.545C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.516C>T
  hgvsp: ENST00000319294.6:c.516C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8467
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2649
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe172Phe
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

21-43833295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833295
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833295
    reference: chr 21
allele count: 20
allele frequency: 1.648261084555794e-4
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.517G>A
  hgvsp: ENSP00000317327.6:p.Ala173Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.517G>A
  hgvsp: ENSP00000291535.6:p.Ala173Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.517G>A
  hgvsp: ENSP00000381408.1:p.Ala173Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.546G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala173Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-43833295-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833295
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833295
    reference: chr 21
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.517G>C
  hgvsp: ENSP00000317327.6:p.Ala173Pro
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.546G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.517G>C
  hgvsp: ENSP00000381408.1:p.Ala173Pro
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.517G>C
  hgvsp: ENSP00000291535.6:p.Ala173Pro
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala173Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

21-43833298-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833298
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833298
    reference: chr 21
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.520A>G
  hgvsp: ENSP00000317327.6:p.Met174Val
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.520A>G
  hgvsp: ENSP00000381408.1:p.Met174Val
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.549A>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.520A>G
  hgvsp: ENSP00000291535.6:p.Met174Val
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8453
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25489
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met174Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

21-43833304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833304
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833304
    reference: chr 21
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.526T>C
  hgvsp: ENSP00000291535.6:p.Phe176Leu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.555T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.526T>C
  hgvsp: ENSP00000317327.6:p.Phe176Leu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.526T>C
  hgvsp: ENSP00000381408.1:p.Phe176Leu
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3637
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe176Leu
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

21-43833306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833306
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833306
    reference: chr 21
allele count: 4
allele frequency: 3.297500494625074e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.557C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.528C>T
  hgvsp: ENST00000398367.1:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.528C>T
  hgvsp: ENST00000291535.6:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.528C>T
  hgvsp: ENST00000319294.6:c.528C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25383
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe176Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

21-43833307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833307
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833307
    reference: chr 21
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.529G>A
  hgvsp: ENSP00000291535.6:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.529G>A
  hgvsp: ENSP00000317327.6:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.529G>A
  hgvsp: ENSP00000381408.1:p.Ala177Thr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.558G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8443
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2652
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala177Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

21-43833308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833308
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833308
    reference: chr 21
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.530C>T
  hgvsp: ENSP00000381408.1:p.Ala177Val
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.559C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.530C>T
  hgvsp: ENSP00000317327.6:p.Ala177Val
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.530C>T
  hgvsp: ENSP00000291535.6:p.Ala177Val
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8442
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala177Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-43833311-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833311
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833311
    reference: chr 21
allele count: 2
allele frequency: 1.648994937585542e-5
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.533C>T
  hgvsp: ENSP00000317327.6:p.Thr178Met
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.562C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.533C>T
  hgvsp: ENSP00000291535.6:p.Thr178Met
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.533C>T
  hgvsp: ENSP00000381408.1:p.Thr178Met
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr178Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

21-43833312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833312
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833312
    reference: chr 21
allele count: 5
allele frequency: 4.12275928033114e-5
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.534G>A
  hgvsp: ENST00000398367.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.534G>A
  hgvsp: ENST00000319294.6:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.534G>A
  hgvsp: ENST00000291535.6:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.563G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8440
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr178Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

21-43833312-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833312
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833312
    reference: chr 21
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.534G>C
  hgvsp: ENST00000398367.1:c.534G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.534G>C
  hgvsp: ENST00000291535.6:c.534G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.534G>C
  hgvsp: ENST00000319294.6:c.534G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.563G>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19851
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr178Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-43833329-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833329
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833329
    reference: chr 21
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.551C>A
  hgvsp: ENSP00000381408.1:p.Ala184Glu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.580C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.551C>A
  hgvsp: ENSP00000317327.6:p.Ala184Glu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.551C>A
  hgvsp: ENSP00000291535.6:p.Ala184Glu
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4377
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24592
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8969
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala184Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

21-43833330-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833330
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833330
    reference: chr 21
allele count: 1
allele frequency: 8.254502831294471e-6
allele num: 121146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.581A>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.552A>T
  hgvsp: ENST00000398367.1:c.552A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.552A>T
  hgvsp: ENST00000319294.6:c.552A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.552A>T
  hgvsp: ENST00000291535.6:c.552A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8972
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
hgvs: c.552A>T
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

21-43833332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833332
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833332
    reference: chr 21
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+1G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+1G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.553+1G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+1G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8964
  bin: 6.75e1
  variant carriers: 0
hgvs: c.553+1G>A
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-43833350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833350
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833350
    reference: chr 21
allele count: 1
allele frequency: 8.270751315049459e-6
allele num: 120908
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+19T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.553+19T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+19T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+19T>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/21-43833353-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833353
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833353
    reference: chr 21
allele count: 1
allele frequency: 8.273762245168123e-6
allele num: 120864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+22C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.553+22C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+22C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+22C>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18821
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
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genotype quality: GenotypeQuality
  all individuals: 209
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genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 275
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genotype quality: GenotypeQuality
  all individuals: 3476
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genotype quality: GenotypeQuality
  all individuals: 1769
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genotype quality: GenotypeQuality
  all individuals: 8375
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3948
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

21-43833371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833371
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833371
    reference: chr 21
allele count: 1
allele frequency: 8.289399515899069e-6
allele num: 120636
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.553+40C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+40C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+40C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+40C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 18520
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 983
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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
  all individuals: 732
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

21-43833376-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833376
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833376
    reference: chr 21
allele count: 17
allele frequency: 1.409454955477805e-4
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.553+45T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+45T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+45T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+45T>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11576
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9572
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15996
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

21-43833472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833472
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833472
    reference: chr 21
allele count: 3
allele frequency: 2.877311440190286e-5
allele num: 104264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-47G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+141G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+141G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+141G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17312
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

21-43833473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833473
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833473
    reference: chr 21
allele count: 1
allele frequency: 9.587543863013173e-6
allele num: 104302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-46G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+142G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+142G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+142G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15286
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-43833474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833474
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833474
    reference: chr 21
allele count: 5
allele frequency: 4.786154611938584e-5
allele num: 104468
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-45G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+143G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+143G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+143G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15098
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

21-43833474-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833474
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833474
    reference: chr 21
allele count: 7
allele frequency: 6.700616456714018e-5
allele num: 104468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+143G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+143G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-45G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+143G>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10323
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17290
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

21-43833488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833488
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833488
    reference: chr 21
allele count: 15
allele frequency: 1.429633441985475e-4
allele num: 104922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+157G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+157G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-31G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+157G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

21-43833488-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833488
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833488
    reference: chr 21
allele count: 2
allele frequency: 1.9061779226473e-5
allele num: 104922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+157G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+157G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+157G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-31G>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

21-43833489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833489
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833489
    reference: chr 21
allele count: 1
allele frequency: 9.487486005958142e-6
allele num: 105402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+158G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-30G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+158G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+158G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10912
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15563
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16000
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-43833499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833499
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833499
    reference: chr 21
allele count: 13
allele frequency: 1.223230080168618e-4
allele num: 106276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-20C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+168C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+168C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+168C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23427
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

21-43833502-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833502
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833502
    reference: chr 21
allele count: 64
allele frequency: 6.12088752869166e-4
allele num: 104560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+171C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-17C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+171C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+171C>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 25606
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 26758
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8778
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 8
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

21-43833502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833502
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833502
    reference: chr 21
allele count: 1
allele frequency: 9.563886763580719e-6
allele num: 104560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+171C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+171C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-17C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+171C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4364
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

21-43833514-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833514
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833514
    reference: chr 21
allele count: 3
allele frequency: 2.653129808797778e-5
allele num: 113074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+183C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.554-5C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+183C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+183C>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
hgvs: c.554-5C>G
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/21-43833520-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833520
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833520
    reference: chr 21
allele count: 77
allele frequency: 6.662859318484675e-4
allele num: 115566
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.555C>A
  hgvsp: ENST00000319294.6:c.555C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+189C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+189C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+189C>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36396
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 9.75e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 2.25e1
  variant carriers: 0
hgvs: c.555C>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

21-43833526-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833526
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833526
    reference: chr 21
allele count: 3
allele frequency: 2.549762872052899e-5
allele num: 117658
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+195C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.561C>T
  hgvsp: ENST00000319294.6:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+195C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+195C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser187Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

21-43833527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833527
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833527
    reference: chr 21
allele count: 10
allele frequency: 8.469408496510604e-5
allele num: 118072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+196G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+196G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+196G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.562G>A
  hgvsp: ENSP00000317327.6:p.Val188Ile
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47774
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val188Ile
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-43833534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833534
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833534
    reference: chr 21
allele count: 1
allele frequency: 8.36470096194061e-6
allele num: 119550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+203G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+203G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.569G>A
  hgvsp: ENSP00000317327.6:p.Arg190His
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+203G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1086
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg190His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

21-43833550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833550
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833550
    reference: chr 21
allele count: 1
allele frequency: 8.283768783445716e-6
allele num: 120718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+219C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+219C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.585C>T
  hgvsp: ENST00000319294.6:c.585C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+219C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50786
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser195Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

21-43833554-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833554
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833554
    reference: chr 21
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+223G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.589G>C
  hgvsp: ENSP00000317327.6:p.Val197Leu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+223G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+223G>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50943
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val197Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-43833568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833568
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833568
    reference: chr 21
allele count: 3
allele frequency: 2.478232854759033e-5
allele num: 121054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+237C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+237C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.603C>T
  hgvsp: ENST00000319294.6:c.603C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+237C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51071
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  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: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly201Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

21-43833575-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833575
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833575
    reference: chr 21
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+244C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+244C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+244C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.610C>T
  hgvsp: ENST00000319294.6:c.610C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51001
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu204Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-43833583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833583
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833583
    reference: chr 21
allele count: 44
allele frequency: 3.635101865468185e-4
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.618G>A
  hgvsp: ENST00000319294.6:c.618G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+252G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+252G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+252G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39852
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4496
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu206Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

21-43833585-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833585
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833585
    reference: chr 21
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+254G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+254G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+254G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.620G>C
  hgvsp: ENSP00000317327.6:p.Ser207Thr
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser207Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

21-43833586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833586
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833586
    reference: chr 21
allele count: 14
allele frequency: 1.156795346377578e-4
allele num: 121024
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+255C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.621C>T
  hgvsp: ENST00000319294.6:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+255C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+255C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50817
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser207Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

21-43833606-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833606
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833606
    reference: chr 21
allele count: 1
allele frequency: 8.33541718763024e-6
allele num: 119970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+275T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+275T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+275T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.641T>G
  hgvsp: ENSP00000317327.6:p.Phe214Cys
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe214Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

21-43833607-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833607
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833607
    reference: chr 21
allele count: 5
allele frequency: 4.18872729709805e-5
allele num: 119368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+276C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.642C>G
  hgvsp: ENSP00000317327.6:p.Phe214Leu
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+276C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+276C>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe214Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

21-43833607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833607
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833607
    reference: chr 21
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+276C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+276C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+276C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.642C>T
  hgvsp: ENST00000319294.6:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46926
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe214Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

21-43833608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833608
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833608
    reference: chr 21
allele count: 34
allele frequency: 2.822607425117885e-4
allele num: 120456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+277G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.643G>A
  hgvsp: ENSP00000317327.6:p.Val215Met
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+277G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+277G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14611
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47309
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1815
  bin: 9.75e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val215Met
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-43833609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833609
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833609
    reference: chr 21
allele count: 16
allele frequency: 1.437995434364496e-4
allele num: 111266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+278T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+278T>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.644T>C
  hgvsp: ENSP00000317327.6:p.Val215Ala
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+278T>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45518
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 9.75e1
  variant carriers: 13
hgvs: p.Val215Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

21-43833609-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833609
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833609
    reference: chr 21
allele count: 158
allele frequency: 1.42002049143494e-3
allele num: 111266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+278T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.644T>G
  hgvsp: ENSP00000317327.6:p.Val215Gly
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+278T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+278T>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 36223
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 45518
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4195
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 9.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3674
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Val215Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

21-43833610-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833610
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833610
    reference: chr 21
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+279G>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.645G>T
  hgvsp: ENST00000319294.6:c.645G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+279G>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+279G>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val215Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

21-43833612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833612
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833612
    reference: chr 21
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+281G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+281G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+281G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.647G>A
  hgvsp: ENSP00000317327.6:p.Ser216Asn
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48835
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser216Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

21-43833614-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833614
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833614
    reference: chr 21
allele count: 2
allele frequency: 1.663838141825563e-5
allele num: 120204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.649C>T
  hgvsp: ENSP00000317327.6:p.His217Tyr
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+283C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+283C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+283C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48647
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His217Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

21-43833617-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833617
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833617
    reference: chr 21
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+286T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+286T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+286T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.652T>G
  hgvsp: ENSP00000317327.6:p.Tyr218Asp
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48265
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr218Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

21-43833618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833618
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833618
    reference: chr 21
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+287A>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+287A>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+287A>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.653A>G
  hgvsp: ENSP00000317327.6:p.Tyr218Cys
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr218Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/21-43833626-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833626
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833626
    reference: chr 21
allele count: 1
allele frequency: 8.392218734789103e-6
allele num: 119158
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.661C>A
  hgvsp: ENSP00000317327.6:p.Gln221Lys
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+295C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+295C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+295C>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln221Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

21-43833633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833633
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833633
    reference: chr 21
allele count: 1
allele frequency: 8.456230550669733e-6
allele num: 118256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+302G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+1G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+302G>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+302G>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 177
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genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 270
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
hgvs: c.667+1G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/21-43833638-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833638
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833638
    reference: chr 21
allele count: 1
allele frequency: 8.520790729379687e-6
allele num: 117360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+6C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+307C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+307C>A
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+307C>A
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 9.75e1
  variant carriers: 1
hgvs: c.667+6C>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

21-43833640-A-ATTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833640
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833643
    reference: chr 21
allele count: 11
allele frequency: 9.398335640197535e-5
allele num: 117042
alternate allele: ATTC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+10_667+11insCTT
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+311_553+312insCTT
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+311_553+312insCTT
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+311_582+312insCTT
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30852
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

21-43833652-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833652
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833652
    reference: chr 21
allele count: 1
allele frequency: 8.69837514352319e-6
allele num: 114964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+321C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+321C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+20C>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+321C>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33305
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

21-43833653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833653
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833653
    reference: chr 21
allele count: 6
allele frequency: 5.23404923495647e-5
allele num: 114634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+322C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+21C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+322C>T
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+322C>T
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32460
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

21-43833660-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833660
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833660
    reference: chr 21
allele count: 1
allele frequency: 8.788736355486809e-6
allele num: 113782
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+28G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+329G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+329G>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+329G>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum

21-43833667-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833667
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833667
    reference: chr 21
allele count: 1
allele frequency: 8.856768342367236e-6
allele num: 112908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+336T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+336T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+35T>G
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+336T>G
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10056
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5070
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-43833677-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 43833677
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 43833677
    reference: chr 21
allele count: 1
allele frequency: 9.130919118318451e-6
allele num: 109518
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl transcript: ENST00000473381
  gene symbol: UBASH3A
  hgvsc: ENST00000473381.1:n.582+346A>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000317327
  ensembl transcript: ENST00000319294
  gene symbol: UBASH3A
  hgvsc: ENST00000319294.6:c.667+45A>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000381408
  ensembl transcript: ENST00000398367
  gene symbol: UBASH3A
  hgvsc: ENST00000398367.1:c.553+346A>C
  variant of: http://identifiers.org/hgnc/12462
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160185
  ensembl protein: ENSP00000291535
  ensembl transcript: ENST00000291535
  gene symbol: UBASH3A
  hgvsc: ENST00000291535.6:c.553+346A>C
  variant of: http://identifiers.org/hgnc/12462
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9192
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8190
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

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

GenotypeQuality
all individuals: 1753
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.817e0

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.357e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.247e1

QD
type: SiteQuality
SIO_000300: 6.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.56e-1

DP
type: SiteQuality
SIO_000300: 2.147779e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 3895
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24694
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 32
allele frequency: 3.078106964217007e-3
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1449
allele frequency: 2.172023024343446e-2
allele num: 66712
num of homozygotes: 19

Latino
type: Population
allele count: 74
allele frequency: 6.391432026256694e-3
allele num: 11578
num of homozygotes: 0

Other
type: Population
allele count: 15
allele frequency: 1.651982378854626e-2
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 146
allele frequency: 2.207438766253402e-2
allele num: 6614
num of homozygotes: 1

South Asian
type: Population
allele count: 105
allele frequency: 6.359011627906977e-3
allele num: 16512
num of homozygotes: 4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.686e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.77e-1

DP
type: SiteQuality
SIO_000300: 2.159345e6

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.433e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3620
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.649e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.493e1

VQSLOD
type: SiteQuality
SIO_000300: -4.189e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 2.00772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.697e0

GenotypeQuality
all individuals: 1798
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3622
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 7.604e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

DP
type: SiteQuality
SIO_000300: 2.007492e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.502e-1

QD
type: SiteQuality
SIO_000300: 1.069e1

GenotypeQuality
all individuals: 4030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3618
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5230
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 2.007461e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 3.263e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

GenotypeQuality
all individuals: 8846
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 25275
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.626416840157298e-4
allele num: 8646
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.407e1

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 2.007125e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 5.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3606
bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
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: 902
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: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.25e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.359e0

DP
type: SiteQuality
SIO_000300: 1.992324e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 2.16643e2

QD
type: SiteQuality
SIO_000300: 1.4e-1

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

GenotypeQuality
all individuals: 9056
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.701e0

DP
type: SiteQuality
SIO_000300: 1.982874e6

QD
type: SiteQuality
SIO_000300: 1.05e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.839e0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3631
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998320940273447e-5
allele num: 66704
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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: 906
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.982778e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8521
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4029
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 8.640055296353897e-5
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: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496701451361401e-5
allele num: 66696
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.328e0

FS
type: SiteQuality
SIO_000300: 1.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.982501e6

QD
type: SiteQuality
SIO_000300: 1.212e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349203969657902e-4
allele num: 66706
num of homozygotes: 1

African
type: Population
allele count: 40
allele frequency: 3.846893633391037e-3
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.320774282751469e-4
allele num: 11572
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.854e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.99e-2

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 1.982195e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

African
type: Population
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: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 2.586e0

QD
type: SiteQuality
SIO_000300: 1.246e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.979395e6

GenotypeQuality
all individuals: 8476
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2650
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4026
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 66688
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.246e1

FS
type: SiteQuality
SIO_000300: 2.586e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

DP
type: SiteQuality
SIO_000300: 1.979395e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9069
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498560460652591e-5
allele num: 66688
num of homozygotes: 0

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

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

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.79e-1

DP
type: SiteQuality
SIO_000300: 1.979395e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 2.586e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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: 8648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.979023e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.407e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

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: 0

South Asian
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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: 906
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: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

DP
type: SiteQuality
SIO_000300: 1.978704e6

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1801
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GenotypeQuality
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variant carriers: 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: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
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

African
type: Population
allele count: 4
allele frequency: 3.847633705271258e-4
allele num: 10396
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: 14
allele frequency: 8.478682170542636e-4
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 1.978867e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4027
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GenotypeQuality
all individuals: 5247
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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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: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.978867e6

MQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.268e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
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: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.977306e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.222e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 2.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

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

GenotypeQuality
all individuals: 8451
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9054
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.085e1

FS
type: SiteQuality
SIO_000300: 1.552e0

DP
type: SiteQuality
SIO_000300: 1.976296e6

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

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

GenotypeQuality
all individuals: 9057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8448
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 162
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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: 66666
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 1.976061e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.404e1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

FS
type: SiteQuality
SIO_000300: 5.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25317
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
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: 11572
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.520999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.975505e6

FS
type: SiteQuality
SIO_000300: 5.951e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.766e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.658e1

GenotypeQuality
all individuals: 1802
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3638
bin: 7.25e1
variant carriers: 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: 11572
num of homozygotes: 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: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
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: 16512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.492e1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 2.087e0

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.975328e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeQuality
all individuals: 25329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8442
bin: 9.75e1
variant carriers: 2

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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 6.154e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: -1.015e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

DP
type: SiteQuality
SIO_000300: 1.974682e6

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.471418653089562e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
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: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

FS
type: SiteQuality
SIO_000300: 3.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.974356e6

GenotypeQuality
all individuals: 4020
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8440
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25314
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5246
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -4.58e-1

FS
type: SiteQuality
SIO_000300: 3.612e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.974356e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.68e-1

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8426
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5225
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.862e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 1.965985e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

QD
type: SiteQuality
SIO_000300: 1.036e1

GenotypeQuality
all individuals: 2648
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1801
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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: 8650
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.086e0

VQSLOD
type: SiteQuality
SIO_000300: 6.69e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

DP
type: SiteQuality
SIO_000300: 1.965756e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

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

GenotypeQuality
all individuals: 2646
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1799
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

QD
type: SiteQuality
SIO_000300: 1.249e1

FS
type: SiteQuality
SIO_000300: 2.616e0

VQSLOD
type: SiteQuality
SIO_000300: -6.636e-1

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.964576e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.24e-1

GenotypeQuality
all individuals: 5112
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8380
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.84e0

QD
type: SiteQuality
SIO_000300: 1.325e1

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

DP
type: SiteQuality
SIO_000300: 1.941271e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.335e0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.933766e6

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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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 6.124448799608035e-5
allele num: 16328
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.869572e6

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 17

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10314
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66322
num of homozygotes: 0

South Asian
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allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

East Asian
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allele count: 16
allele frequency: 1.852280620514008e-3
allele num: 8638
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.848273e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7504
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.161379120500998e-5
allele num: 58124
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.931e0

QD
type: SiteQuality
SIO_000300: 7.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.054e0

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

FS
type: SiteQuality
SIO_000300: 1.781e0

DP
type: SiteQuality
SIO_000300: 1.076512e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718390212049352e-5
allele num: 58194
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.54e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.648936170212766e-4
allele num: 7520
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.07764e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7520
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.377170072207712e-4
allele num: 13018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58268
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.266e1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.07764e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.098659635245001e-4
allele num: 9102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58544
num of homozygotes: 0

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

East Asian
type: Population
allele count: 9
allele frequency: 1.19205298013245e-3
allele num: 7550
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.999000199960008e-4
allele num: 10002
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5858
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

FS
type: SiteQuality
SIO_000300: 7.23e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.119433e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13078
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9102
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7550
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58544
num of homozygotes: 0

Latino
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allele frequency: 1.999600079984003e-4
allele num: 10002
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Other
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allele frequency: 0.0e0
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10048
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Other
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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5864
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.701258931609391e-5
allele num: 58780
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 12

European (Non-Finnish)
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allele count: 12
allele frequency: 2.023335806299319e-4
allele num: 59308
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 1.093852548676438e-4
allele num: 9142
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.895e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 5.705591479650057e-4
allele num: 5258
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African
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allele num: 8754
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South Asian
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Latino
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allele frequency: 9.769441187964049e-5
allele num: 10236
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European (Non-Finnish)
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allele count: 46
allele frequency: 7.903236890935331e-4
allele num: 58204
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Other
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.718094976290289e-5
allele num: 58204
num of homozygotes: 0

Latino
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African
type: Population
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7766
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.7958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

MQ
type: SiteQuality
SIO_000300: 5.662e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.33e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

QD
type: SiteQuality
SIO_000300: 5.4e-1

DP
type: SiteQuality
SIO_000300: 1.223175e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.640776699029126e-4
allele num: 8240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6046
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63118
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14352
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.618e1

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 1.6107e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

DP
type: SiteQuality
SIO_000300: 1.356886e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.754931099702783e-5
allele num: 14804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.767834949043003e-5
allele num: 64368
num of homozygotes: 0

East Asian
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allele count: 71
allele frequency: 8.420303605313094e-3
allele num: 8432
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.407079e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.465e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 5.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.592352202798273e-5
allele num: 65326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.44041e6

QD
type: SiteQuality
SIO_000300: 1.134e1

MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.052e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 6.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 4
allele frequency: 3.991219317501497e-4
allele num: 10022
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.771165426850868e-4
allele num: 11292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.581131844974499e-5
allele num: 65486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15414
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.447416e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.32e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 1.598e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513454611496201e-5
allele num: 66074
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.470329e6

VQSLOD
type: SiteQuality
SIO_000300: -1.095e-1

QD
type: SiteQuality
SIO_000300: 1.557e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.89e-1

FS
type: SiteQuality
SIO_000300: 1.228e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.939e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.486055e6

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 6.583e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 8650
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.039e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.836e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.48788e6

QD
type: SiteQuality
SIO_000300: 1.549e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.502611514678514e-5
allele num: 66628
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8652
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African
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Other
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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South Asian
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FS
type: SiteQuality
SIO_000300: 2.506e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
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SIO_000300: 1.490965e6

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

Other
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Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
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VQSLOD
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 2.07e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
type: Population
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South Asian
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allele count: 44
allele frequency: 2.688829137130286e-3
allele num: 16364
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

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: 9.648784253184099e-5
allele num: 10364
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

South Asian
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DP
type: SiteQuality
SIO_000300: 1.490197e6

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 14

European (Non-Finnish)
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allele count: 14
allele frequency: 2.101534119907533e-4
allele num: 66618
num of homozygotes: 0

African
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South Asian
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Latino
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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QD
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MQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

DP
type: SiteQuality
SIO_000300: 1.490265e6

FS
type: SiteQuality
SIO_000300: 3.238e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.4e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.194e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.763e1

VQSLOD
type: SiteQuality
SIO_000300: -1.436e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

DP
type: SiteQuality
SIO_000300: 1.478621e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 959
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.238236750866766e-4
allele num: 16152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0389594602808e-5
allele num: 65812
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

QD
type: SiteQuality
SIO_000300: 4.8e0

FS
type: SiteQuality
SIO_000300: 2.8886e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

DP
type: SiteQuality
SIO_000300: 1.481003e6

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 6.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

DP
type: SiteQuality
SIO_000300: 1.481003e6

VQSLOD
type: SiteQuality
SIO_000300: -5.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 2.8886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

QD
type: SiteQuality
SIO_000300: 4.8e0

GenotypeQuality
all individuals: 311
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 12
allele frequency: 1.390498261877173e-3
allele num: 8630
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.16663426015944e-3
allele num: 10286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 8
allele frequency: 4.958472790380563e-4
allele num: 16134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012229652388698e-5
allele num: 66396
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.505944e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 3.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.75e1
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GenotypeQuality
all individuals: 279
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16002
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.44286475919673e-4
allele num: 11254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.261757283780684e-3
allele num: 8718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.906e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.542258e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 1.43512e2

VQSLOD
type: SiteQuality
SIO_000300: -1.003e2

GenotypeQuality
all individuals: 826
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 3

African
type: Population
allele count: 33
allele frequency: 3.785271851342051e-3
allele num: 8718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 90
allele frequency: 1.477056390730651e-3
allele num: 60932
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.44286475919673e-4
allele num: 11254
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.531645569620253e-3
allele num: 790
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.144558228149559e-4
allele num: 8398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 19
allele frequency: 3.673627223511214e-3
allele num: 5172
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.874765654293213e-4
allele num: 16002
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.003e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.906e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

DP
type: SiteQuality
SIO_000300: 1.542258e6

FS
type: SiteQuality
SIO_000300: 1.43512e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.541e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

QD
type: SiteQuality
SIO_000300: 2.11e0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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: 16096
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.98e-1

FS
type: SiteQuality
SIO_000300: 1.708e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.038e0

DP
type: SiteQuality
SIO_000300: 1.501579e6

GenotypeQuality
all individuals: 1653
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1107
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.499956e6

FS
type: SiteQuality
SIO_000300: 5.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.626e0

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
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GenotypeQuality
all individuals: 1652
bin: 9.75e1
variant carriers: 2

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: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.244536030972898e-5
allele num: 16014
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.499e1

VQSLOD
type: SiteQuality
SIO_000300: -1.38e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 1.497553e6

GenotypeQuality
all individuals: 1085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.28693574751666e-5
allele num: 15906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.376e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 5.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.493208e6

GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511121856866538e-5
allele num: 66176
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15850
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 6.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.01e-1

FS
type: SiteQuality
SIO_000300: 1.359e0

VQSLOD
type: SiteQuality
SIO_000300: -7.032e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.490331e6

GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.819324430479184e-5
allele num: 10184
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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: 11390
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.14e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.29e-1

QD
type: SiteQuality
SIO_000300: 1.091e1

FS
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

DP
type: SiteQuality
SIO_000300: 1.477428e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

GenotypeQuality
all individuals: 669
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4218
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65430
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.481e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

DP
type: SiteQuality
SIO_000300: 1.454467e6

GenotypeQuality
all individuals: 1252
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42978
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.873114463176575e-5
allele num: 11270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.035e0

QD
type: SiteQuality
SIO_000300: 9.050000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

DP
type: SiteQuality
SIO_000300: 1.431395e6

GenotypeQuality
all individuals: 656
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 2.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15252
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.796936230851443e-4
allele num: 11228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.947e0

MQRankSum
type: SiteQuality
SIO_000300: -1.021e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

DP
type: SiteQuality
SIO_000300: 1.419093e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.967e1

MQ
type: SiteQuality
SIO_000300: 5.568e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

GenotypeQuality
all individuals: 954
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 648
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63714
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.077705156136529e-5
allele num: 11016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

DP
type: SiteQuality
SIO_000300: 1.323305e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 6.93e0

VQSLOD
type: SiteQuality
SIO_000300: -1.843e0

GenotypeQuality
all individuals: 2798
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.86559275106972e-5
allele num: 63568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14742
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016260162601626e-4
allele num: 9840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.028e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: 9.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.316978e6

QD
type: SiteQuality
SIO_000300: 2.835e1

GenotypeQuality
all individuals: 3238
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9522
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 907
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14606
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

DP
type: SiteQuality
SIO_000300: 1.257889e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

GenotypeQuality
all individuals: 795
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1646
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595405232929164e-5
allele num: 62680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.203585e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0