12-57994253-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994253
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994252
    reference: chr 12
allele count: 1
allele frequency: 9.047481181239142e-6
allele num: 110528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.236+40delT
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.813+40delT
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.813+40delT
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.669+40delT
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.759+40delT
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3827
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: CT
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-57994264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994264
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994264
    reference: chr 12
allele count: 1
allele frequency: 9.20929033208701e-6
allele num: 108586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.236+44C>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.813+44C>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.813+44C>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.759+44C>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.669+44C>A
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9529
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8764
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3997
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

12-57994545-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994545
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994545
    reference: chr 12
allele count: 3
allele frequency: 2.528274536904381e-5
allele num: 118658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-49T>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-49T>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-49T>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-49T>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-49T>C
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44165
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 50788
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  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 569
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 283
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-57994551-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994551
    reference: chr 12
allele count: 2
allele frequency: 1.683671751355356e-5
allele num: 118788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-43T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-43T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-43T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-43T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-43T>G
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44165
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50796
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-57994565-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994565
    reference: chr 12
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-29G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-29G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-29G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-29G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-29G>A
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-57994567-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994567
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994567
    reference: chr 12
allele count: 6
allele frequency: 5.027146591594611e-5
allele num: 119352
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-27G>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-27G>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-27G>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-27G>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-27G>C
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44164
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50817
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

12-57994572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994572
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994572
    reference: chr 12
allele count: 3
allele frequency: 2.507857954925433e-5
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-22C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-22C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-22C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-22C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-22C>T
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44162
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50824
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-57994581-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994581
    reference: chr 12
allele count: 2
allele frequency: 1.666722224074136e-5
allele num: 119996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-13C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-13C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-13C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-13C>T
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-13C>T
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44162
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50828
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-57994582-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994582
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994582
    reference: chr 12
allele count: 2
allele frequency: 1.665112561609165e-5
allele num: 120112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-12A>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-12A>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-12A>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-12A>C
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-12A>C
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44161
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50832
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5005
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

12-57994584-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994584
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994584
    reference: chr 12
allele count: 1
allele frequency: 8.318775476249896e-6
allele num: 120210
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-10T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-10T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-10T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-10T>G
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-10T>G
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50836
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

12-57994587-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994587
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994587
    reference: chr 12
allele count: 1
allele frequency: 8.304958059961797e-6
allele num: 120410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.760-7G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.670-7G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.814-7G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.814-7G>A
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.237-7G>A
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50839
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
hgvs: c.814-7G>A
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

12-57994595-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994595
    reference: chr 12
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.815T>G
  hgvsp: ENSP00000347032.5:p.Phe272Cys
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.761T>G
  hgvsp: ENSP00000447390.1:p.Phe254Cys
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.815T>G
  hgvsp: ENSP00000439878.2:p.Phe272Cys
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.671T>G
  hgvsp: ENSP00000412035.3:p.Phe224Cys
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.238T>G
  hgvsp: ENSP00000449538.1:p.Phe80Cys
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe272Cys
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-57994599-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994599
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994599
    reference: chr 12
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.675A>T
  hgvsp: ENST00000422156.3:c.675A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.819A>T
  hgvsp: ENST00000354947.5:c.819A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.242A>T
  hgvsp: ENST00000548264.1:c.242A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.819A>T
  hgvsp: ENST00000540759.2:c.819A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.765A>T
  hgvsp: ENST00000550465.1:c.765A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu273Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

12-57994600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994600
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994600
    reference: chr 12
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.820G>A
  hgvsp: ENSP00000439878.2:p.Val274Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.820G>A
  hgvsp: ENSP00000347032.5:p.Val274Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.243G>A
  hgvsp: ENSP00000449538.1:p.Val82Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.676G>A
  hgvsp: ENSP00000412035.3:p.Val226Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.766G>A
  hgvsp: ENSP00000447390.1:p.Val256Met
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val274Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

12-57994602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994602
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994602
    reference: chr 12
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.822G>A
  hgvsp: ENST00000354947.5:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.822G>A
  hgvsp: ENST00000540759.2:c.822G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.245G>A
  hgvsp: ENST00000548264.1:c.245G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.678G>A
  hgvsp: ENST00000422156.3:c.678G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.768G>A
  hgvsp: ENST00000550465.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5292
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50848
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val274Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

12-57994610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994610
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994610
    reference: chr 12
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.253A>G
  hgvsp: ENSP00000449538.1:p.Lys85Arg
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.776A>G
  hgvsp: ENSP00000447390.1:p.Lys259Arg
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.830A>G
  hgvsp: ENSP00000439878.2:p.Lys277Arg
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.830A>G
  hgvsp: ENSP00000347032.5:p.Lys277Arg
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.686A>G
  hgvsp: ENSP00000412035.3:p.Lys229Arg
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys277Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-57994626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994626
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994626
    reference: chr 12
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.846C>T
  hgvsp: ENST00000540759.2:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.792C>T
  hgvsp: ENST00000550465.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.702C>T
  hgvsp: ENST00000422156.3:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.846C>T
  hgvsp: ENST00000354947.5:c.846C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.269C>T
  hgvsp: ENST00000548264.1:c.269C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50864
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5607
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser282Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

12-57994629-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994629
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994629
    reference: chr 12
allele count: 5
allele frequency: 4.124595789612618e-5
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.795T>G
  hgvsp: ENST00000550465.1:c.795T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.849T>G
  hgvsp: ENST00000354947.5:c.849T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.272T>G
  hgvsp: ENST00000548264.1:c.272T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.849T>G
  hgvsp: ENST00000540759.2:c.849T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.705T>G
  hgvsp: ENST00000422156.3:c.705T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50864
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu283Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

12-57994632-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994632
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994632
    reference: chr 12
allele count: 2
allele frequency: 1.649593375233005e-5
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.708G>A
  hgvsp: ENST00000422156.3:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.852G>A
  hgvsp: ENST00000540759.2:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.852G>A
  hgvsp: ENST00000354947.5:c.852G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.798G>A
  hgvsp: ENST00000550465.1:c.798G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.275G>A
  hgvsp: ENST00000548264.1:c.275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44160
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50864
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu284Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-57994636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994636
    reference: chr 12
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.856G>A
  hgvsp: ENSP00000347032.5:p.Gly286Ser
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.712G>A
  hgvsp: ENSP00000412035.3:p.Gly238Ser
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.802G>A
  hgvsp: ENSP00000447390.1:p.Gly268Ser
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.856G>A
  hgvsp: ENSP00000439878.2:p.Gly286Ser
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.279G>A
  hgvsp: ENSP00000449538.1:p.Gly94Ser
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 9.25e1
  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: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly286Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

12-57994644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994644
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994644
    reference: chr 12
allele count: 2
allele frequency: 1.648587160803192e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.864C>T
  hgvsp: ENST00000354947.5:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.864C>T
  hgvsp: ENST00000540759.2:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.810C>T
  hgvsp: ENST00000550465.1:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.720C>T
  hgvsp: ENST00000422156.3:c.720C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.287C>T
  hgvsp: ENST00000548264.1:c.287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50868
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His288His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

12-57994646-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994646
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.289A>G
  hgvsp: ENSP00000449538.1:p.Asp97Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.866A>G
  hgvsp: ENSP00000439878.2:p.Asp289Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.866A>G
  hgvsp: ENSP00000347032.5:p.Asp289Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.722A>G
  hgvsp: ENSP00000412035.3:p.Asp241Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.812A>G
  hgvsp: ENSP00000447390.1:p.Asp271Gly
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp289Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-57994648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994648
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994648
    reference: chr 12
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.814A>G
  hgvsp: ENSP00000447390.1:p.Ile272Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.868A>G
  hgvsp: ENSP00000439878.2:p.Ile290Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.724A>G
  hgvsp: ENSP00000412035.3:p.Ile242Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.291A>G
  hgvsp: ENSP00000449538.1:p.Ile98Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.868A>G
  hgvsp: ENSP00000347032.5:p.Ile290Val
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44161
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile290Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

12-57994654-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994654
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994654
    reference: chr 12
allele count: 6
allele frequency: 4.943968358602505e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.874C>T
  hgvsp: ENSP00000439878.2:p.Arg292Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.820C>T
  hgvsp: ENSP00000447390.1:p.Arg274Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.730C>T
  hgvsp: ENSP00000412035.3:p.Arg244Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.874C>T
  hgvsp: ENSP00000347032.5:p.Arg292Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.297C>T
  hgvsp: ENSP00000449538.1:p.Arg100Trp
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44161
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50870
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Arg292Trp
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-57994655-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994655
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994655
    reference: chr 12
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.731G>A
  hgvsp: ENSP00000412035.3:p.Arg244Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.875G>A
  hgvsp: ENSP00000347032.5:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.875G>A
  hgvsp: ENSP00000439878.2:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.298G>A
  hgvsp: ENSP00000449538.1:p.Arg100Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.821G>A
  hgvsp: ENSP00000447390.1:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50872
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg292Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-57994655-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994655
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994655
    reference: chr 12
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.875G>C
  hgvsp: ENSP00000347032.5:p.Arg292Pro
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.821G>C
  hgvsp: ENSP00000447390.1:p.Arg274Pro
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.298G>C
  hgvsp: ENSP00000449538.1:p.Arg100Pro
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.731G>C
  hgvsp: ENSP00000412035.3:p.Arg244Pro
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.875G>C
  hgvsp: ENSP00000439878.2:p.Arg292Pro
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44163
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50872
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg292Pro
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-57994662-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994662
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994662
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.828T>C
  hgvsp: ENST00000550465.1:c.828T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.882T>C
  hgvsp: ENST00000540759.2:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.305T>C
  hgvsp: ENST00000548264.1:c.305T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.738T>C
  hgvsp: ENST00000422156.3:c.738T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.882T>C
  hgvsp: ENST00000354947.5:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser294Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

12-57994674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994674
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994674
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.894G>A
  hgvsp: ENST00000354947.5:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.894G>A
  hgvsp: ENST00000540759.2:c.894G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.750G>A
  hgvsp: ENST00000422156.3:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.317G>A
  hgvsp: ENST00000548264.1:c.317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.840G>A
  hgvsp: ENST00000550465.1:c.840G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50873
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu298Glu
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

12-57994679-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994679
    reference: chr 12
allele count: 2673
allele frequency: 2.202174987642116e-2
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.899C>G
  hgvsp: ENSP00000347032.5:p.Ala300Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.755C>G
  hgvsp: ENSP00000412035.3:p.Ala252Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.322C>G
  hgvsp: ENSP00000449538.1:p.Ala108Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.845C>G
  hgvsp: ENSP00000447390.1:p.Ala282Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.899C>G
  hgvsp: ENSP00000439878.2:p.Ala300Gly
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 44300
  bin: 9.75e1
  variant carriers: 2333
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala300Gly
num of homozygotes: 108
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-57994679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994679
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994679
    reference: chr 12
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.845C>T
  hgvsp: ENSP00000447390.1:p.Ala282Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.755C>T
  hgvsp: ENSP00000412035.3:p.Ala252Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.899C>T
  hgvsp: ENSP00000439878.2:p.Ala300Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.322C>T
  hgvsp: ENSP00000449538.1:p.Ala108Val
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.899C>T
  hgvsp: ENSP00000347032.5:p.Ala300Val
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44300
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51176
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5512
  bin: 6.25e1
  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: 1530
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala300Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS

12-57994680-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994680
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.900G>T
  hgvsp: ENST00000540759.2:c.900G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.846G>T
  hgvsp: ENST00000550465.1:c.846G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.323G>T
  hgvsp: ENST00000548264.1:c.323G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.900G>T
  hgvsp: ENST00000354947.5:c.900G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.756G>T
  hgvsp: ENST00000422156.3:c.756G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5540
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala300Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-57994680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994680
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994680
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.900G>A
  hgvsp: ENST00000354947.5:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.900G>A
  hgvsp: ENST00000540759.2:c.900G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.756G>A
  hgvsp: ENST00000422156.3:c.756G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.323G>A
  hgvsp: ENST00000548264.1:c.323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.846G>A
  hgvsp: ENST00000550465.1:c.846G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala300Ala
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-57994681-CCCG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994681
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994678
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.758_760delCCG
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.902_904delCCG
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.902_904delCCG
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.325_327delCCG
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.848_850delCCG
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro301_Val302delinsLeu
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: CCCG
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/12-57994683-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994683
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994683
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.759C>A
  hgvsp: ENST00000422156.3:c.759C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.326C>A
  hgvsp: ENST00000548264.1:c.326C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.903C>A
  hgvsp: ENST00000354947.5:c.903C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.849C>A
  hgvsp: ENST00000550465.1:c.849C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.903C>A
  hgvsp: ENST00000540759.2:c.903C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro301Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-57994683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994683
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994683
    reference: chr 12
allele count: 7
allele frequency: 5.767202741892961e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.849C>T
  hgvsp: ENST00000550465.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.326C>T
  hgvsp: ENST00000548264.1:c.326C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.903C>T
  hgvsp: ENST00000540759.2:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.759C>T
  hgvsp: ENST00000422156.3:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.903C>T
  hgvsp: ENST00000354947.5:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51081
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro301Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

12-57994684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994684
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.904G>A
  hgvsp: ENSP00000439878.2:p.Val302Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.760G>A
  hgvsp: ENSP00000412035.3:p.Val254Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.327G>A
  hgvsp: ENSP00000449538.1:p.Val110Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.904G>A
  hgvsp: ENSP00000347032.5:p.Val302Met
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.850G>A
  hgvsp: ENSP00000447390.1:p.Val284Met
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43946
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51083
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val302Met
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-57994684-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994684
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994684
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.904G>T
  hgvsp: ENSP00000439878.2:p.Val302Leu
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.327G>T
  hgvsp: ENSP00000449538.1:p.Val110Leu
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.850G>T
  hgvsp: ENSP00000447390.1:p.Val284Leu
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.760G>T
  hgvsp: ENSP00000412035.3:p.Val254Leu
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.904G>T
  hgvsp: ENSP00000347032.5:p.Val302Leu
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val302Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

12-57994686-G-GAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994686
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994688
    reference: chr 12
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: GAA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.906_907insAA
  hgvsp: ENSP00000347032.5:p.Arg303AsnfsTer14
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.329_330insAA
  hgvsp: ENSP00000449538.1:p.Arg111AsnfsTer14
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.906_907insAA
  hgvsp: ENSP00000439878.2:p.Arg303AsnfsTer14
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.762_763insAA
  hgvsp: ENSP00000412035.3:p.Arg255AsnfsTer14
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.852_853insAA
  hgvsp: ENSP00000447390.1:p.Arg285AsnfsTer14
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5525
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51083
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg303AsnfsTer14
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

12-57994687-C-CCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994690
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: CCAG
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.907_908insCAG
  hgvsp: ENSP00000347032.5:p.Arg303delinsProGly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.763_764insCAG
  hgvsp: ENSP00000412035.3:p.Arg255delinsProGly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.853_854insCAG
  hgvsp: ENSP00000447390.1:p.Arg285delinsProGly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.907_908insCAG
  hgvsp: ENSP00000439878.2:p.Arg303delinsProGly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.330_331insCAG
  hgvsp: ENSP00000449538.1:p.Arg111delinsProGly
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51084
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg303delinsProGly
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: C
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

12-57994687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994687
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994687
    reference: chr 12
allele count: 3
allele frequency: 2.471658317954126e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.907C>T
  hgvsp: ENSP00000347032.5:p.Arg303Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.763C>T
  hgvsp: ENSP00000412035.3:p.Arg255Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.853C>T
  hgvsp: ENSP00000447390.1:p.Arg285Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.907C>T
  hgvsp: ENSP00000439878.2:p.Arg303Trp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.330C>T
  hgvsp: ENSP00000449538.1:p.Arg111Trp
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43948
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg303Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-57994688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994688
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994688
    reference: chr 12
allele count: 6
allele frequency: 4.94323518265254e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.908G>A
  hgvsp: ENSP00000439878.2:p.Arg303Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.908G>A
  hgvsp: ENSP00000347032.5:p.Arg303Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.764G>A
  hgvsp: ENSP00000412035.3:p.Arg255Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.331G>A
  hgvsp: ENSP00000449538.1:p.Arg111Gln
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.854G>A
  hgvsp: ENSP00000447390.1:p.Arg285Gln
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43951
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  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: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg303Gln
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: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD

12-57994689-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994689
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994689
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.909G>T
  hgvsp: ENST00000354947.5:c.909G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.855G>T
  hgvsp: ENST00000550465.1:c.855G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.332G>T
  hgvsp: ENST00000548264.1:c.332G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.909G>T
  hgvsp: ENST00000540759.2:c.909G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.765G>T
  hgvsp: ENST00000422156.3:c.765G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51087
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg303Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-57994693-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994693
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994693
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.913G>A
  hgvsp: ENSP00000347032.5:p.Asp305Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.336G>A
  hgvsp: ENSP00000449538.1:p.Asp113Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.859G>A
  hgvsp: ENSP00000447390.1:p.Asp287Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.769G>A
  hgvsp: ENSP00000412035.3:p.Asp257Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.913G>A
  hgvsp: ENSP00000439878.2:p.Asp305Asn
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5514
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51086
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp305Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

12-57994697-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994697
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994697
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.917A>G
  hgvsp: ENSP00000347032.5:p.Glu306Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.773A>G
  hgvsp: ENSP00000412035.3:p.Glu258Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.917A>G
  hgvsp: ENSP00000439878.2:p.Glu306Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.340A>G
  hgvsp: ENSP00000449538.1:p.Glu114Gly
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.863A>G
  hgvsp: ENSP00000447390.1:p.Glu288Gly
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5502
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu306Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-57994698-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994698
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994698
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.918G>T
  hgvsp: ENSP00000439878.2:p.Glu306Asp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.341G>T
  hgvsp: ENSP00000449538.1:p.Glu114Asp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.918G>T
  hgvsp: ENSP00000347032.5:p.Glu306Asp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.774G>T
  hgvsp: ENSP00000412035.3:p.Glu258Asp
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.864G>T
  hgvsp: ENSP00000447390.1:p.Glu288Asp
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu306Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-57994708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994708
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994708
    reference: chr 12
allele count: 5
allele frequency: 4.119226903494752e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.874G>A
  hgvsp: ENSP00000447390.1:p.Asp292Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.928G>A
  hgvsp: ENSP00000347032.5:p.Asp310Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.351G>A
  hgvsp: ENSP00000449538.1:p.Asp118Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.928G>A
  hgvsp: ENSP00000439878.2:p.Asp310Asn
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.784G>A
  hgvsp: ENSP00000412035.3:p.Asp262Asn
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5447
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp310Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

12-57994710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994710
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994710
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.930T>C
  hgvsp: ENST00000354947.5:c.930T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.876T>C
  hgvsp: ENST00000550465.1:c.876T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.930T>C
  hgvsp: ENST00000540759.2:c.930T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.353T>C
  hgvsp: ENST00000548264.1:c.353T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.786T>C
  hgvsp: ENST00000422156.3:c.786T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51084
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp310Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

12-57994712-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994712
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994712
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.932G>C
  hgvsp: ENSP00000439878.2:p.Gly311Ala
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.878G>C
  hgvsp: ENSP00000447390.1:p.Gly293Ala
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.932G>C
  hgvsp: ENSP00000347032.5:p.Gly311Ala
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.355G>C
  hgvsp: ENSP00000449538.1:p.Gly119Ala
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.788G>C
  hgvsp: ENSP00000412035.3:p.Gly263Ala
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43950
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly311Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-57994718-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994718
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994718
    reference: chr 12
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.361G>A
  hgvsp: ENSP00000449538.1:p.Cys121Tyr
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.938G>A
  hgvsp: ENSP00000347032.5:p.Cys313Tyr
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.938G>A
  hgvsp: ENSP00000439878.2:p.Cys313Tyr
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.884G>A
  hgvsp: ENSP00000447390.1:p.Cys295Tyr
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.794G>A
  hgvsp: ENSP00000412035.3:p.Cys265Tyr
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43951
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys313Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

12-57994719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57994719
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57994719
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.795C>T
  hgvsp: ENST00000422156.3:c.795C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000449538
  ensembl transcript: ENST00000548264
  gene symbol: PIP4K2C
  hgvsc: ENST00000548264.1:c.362C>T
  hgvsp: ENST00000548264.1:c.362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.885C>T
  hgvsp: ENST00000550465.1:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.939C>T
  hgvsp: ENST00000540759.2:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.939C>T
  hgvsp: ENST00000354947.5:c.939C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43951
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys313Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

12-57995131-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57995131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 57995131
    reference: chr 12
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000347032
  ensembl transcript: ENST00000354947
  gene symbol: PIP4K2C
  hgvsc: ENST00000354947.5:c.1185G>T
  hgvsp: ENST00000354947.5:c.1185G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000439878
  ensembl transcript: ENST00000540759
  gene symbol: PIP4K2C
  hgvsc: ENST00000540759.2:c.1185G>T
  hgvsp: ENST00000540759.2:c.1185G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000412035
  ensembl transcript: ENST00000422156
  gene symbol: PIP4K2C
  hgvsc: ENST00000422156.3:c.1041G>T
  hgvsp: ENST00000422156.3:c.1041G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000166908
  ensembl protein: ENSP00000447390
  ensembl transcript: ENST00000550465
  gene symbol: PIP4K2C
  hgvsc: ENST00000550465.1:c.1131G>T
  hgvsp: ENST00000550465.1:c.1131G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/23786
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26664
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1185G>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-31703335-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703335
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703335
    reference: chr 11
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1144G>C
  hgvsp: ENSP00000379267.2:p.Ala382Pro
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31566G>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36031C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31566G>C
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala382Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS

11-31703345-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703345
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703345
    reference: chr 11
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36041T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31576A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1154A>G
  hgvsp: ENSP00000379267.2:p.Gln385Arg
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31576A>G
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln385Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

11-31703352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703352
    reference: chr 11
allele count: 2
allele frequency: 1.0e0
allele num: 2
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36048G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31583C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31583C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1161C>T
  hgvsp: ENST00000395934.2:c.1161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 2.5e0
  variant carriers: 822
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 204
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 541
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 45
hgvs: p.His387His
num of homozygotes: 1
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-31703361-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703361
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703361
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31592C>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1170C>A
  hgvsp: ENST00000395934.2:c.1170C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36057G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31592C>A
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 4135
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly390Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

11-31703476-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703476
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703476
    reference: chr 11
allele count: 1
allele frequency: 7.122507122507123e-4
allele num: 1404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1285A>G
  hgvsp: ENSP00000379267.2:p.Met429Val
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31707A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31707A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36172T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met429Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-31703477-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703477
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703477
    reference: chr 11
allele count: 1
allele frequency: 7.204610951008645e-4
allele num: 1388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31708T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36173A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1286T>C
  hgvsp: ENSP00000379267.2:p.Met429Thr
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31708T>C
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4520
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met429Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

11-31703493-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703493
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703493
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 2524
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31724T>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36189A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31724T>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1302T>G
  hgvsp: ENST00000395934.2:c.1302T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3699
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 204
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genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val434Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

11-31703506-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703506
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703506
    reference: chr 11
allele count: 1
allele frequency: 2.939447383891828e-4
allele num: 3402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31737C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31737C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36202G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1315C>T
  hgvsp: ENSP00000379267.2:p.Leu439Phe
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu439Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

11-31703509-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703509
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703509
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 3574
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31740G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36205C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1318G>A
  hgvsp: ENSP00000379267.2:p.Glu440Lys
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31740G>A
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu440Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

11-31703518-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703518
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703518
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 4224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36214T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1327A>T
  hgvsp: ENSP00000379267.2:p.Thr443Ser
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31749A>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31749A>T
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4734
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr443Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-31703579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703579
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703579
    reference: chr 11
allele count: 1
allele frequency: 8.770391159445712e-5
allele num: 11402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31810G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1388G>A
  hgvsp: ENSP00000379267.2:p.Arg463His
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31810G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36275C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
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genotype quality: GenotypeQuality
  all individuals: 169
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genotype quality: GenotypeQuality
  all individuals: 93
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg463His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

11-31703581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703581
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703581
    reference: chr 11
allele count: 2
allele frequency: 1.735207357279195e-4
allele num: 11526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31812G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36277C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31812G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1390G>A
  hgvsp: ENSP00000379267.2:p.Ala464Thr
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4117
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 222
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1549
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala464Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

11-31703591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703591
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703591
    reference: chr 11
allele count: 1
allele frequency: 8.18732601932209e-5
allele num: 12214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36287C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31822G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31822G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1400G>A
  hgvsp: ENSP00000379267.2:p.Arg467Lys
  variant of: http://identifiers.org/hgnc/1171
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg467Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

11-31703635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703635
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703635
    reference: chr 11
allele count: 1
allele frequency: 9.137426900584795e-5
allele num: 10944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36331G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31866C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1432+12C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31866C>T
  variant of: http://identifiers.org/hgnc/1171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3841
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

11-31703672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31703672
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31703672
    reference: chr 11
allele count: 1
allele frequency: 1.207729468599034e-4
allele num: 8280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1146+31903C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1432+49C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.472-36368G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1143+31903C>T
  variant of: http://identifiers.org/hgnc/1171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-31784908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784908
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784908
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 107244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3871G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-20033C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1147-51C>T
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3871G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3871G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1433-51C>T
  variant of: http://identifiers.org/hgnc/1171
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3439
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

11-31784913-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784913
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784913
    reference: chr 11
allele count: 2
allele frequency: 1.857389624621557e-5
allele num: 107678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3866T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3866T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1433-46A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1147-46A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3866T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-20028A>G
  variant of: http://identifiers.org/hgnc/1171
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13661
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9273
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-31784942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784942
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784942
    reference: chr 11
allele count: 1
allele frequency: 9.079848184938348e-6
allele num: 110134
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1147-17T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1433-17T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3837A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-19999T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3837A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3837A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-31784944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784944
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784944
    reference: chr 11
allele count: 1
allele frequency: 9.05682250439256e-6
allele num: 110414
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1147-15T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3835A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1433-15T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3835A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-19997T>C
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3835A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3668
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9470
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-31784945-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784945
    reference: chr 11
allele count: 2
allele frequency: 1.809070680391483e-5
allele num: 110554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1147-14T>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3834A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3834A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3834A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1433-14T>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-19996T>A
  variant of: http://identifiers.org/hgnc/1171
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9481
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1771
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

11-31784957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784957
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784957
    reference: chr 11
allele count: 4
allele frequency: 3.553218327500133e-5
allele num: 112574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1147-2A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-19984A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3822T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3822T>C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1433-2A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3822T>C
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12086
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9535
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1433-2A>G
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

11-31784981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784981
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784981
    reference: chr 11
allele count: 1
allele frequency: 8.736829229935872e-6
allele num: 114458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3798C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1169G>A
  hgvsp: ENSP00000368461.5:p.Arg390Lys
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3798C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-19960G>A
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1455G>A
  hgvsp: ENST00000395934.2:c.1455G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3798C>T
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24217
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6686
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg390Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

11-31784982-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31784982
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 31784982
    reference: chr 11
allele count: 1
allele frequency: 8.734234706355028e-6
allele num: 114492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000298937
  ensembl transcript: ENST00000350638
  gene symbol: ELP4
  hgvsc: ENST00000350638.5:c.1144-19959A>G
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000379267
  ensembl transcript: ENST00000395934
  gene symbol: ELP4
  hgvsc: ENST00000395934.2:c.1456A>G
  hgvsp: ENSP00000379267.2:p.Thr486Ala
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000429821
  gene symbol: Z83001.1
  hgvsc: ENST00000429821.1:n.471+3797T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000109911
  ensembl protein: ENSP00000368461
  ensembl transcript: ENST00000379163
  gene symbol: ELP4
  hgvsc: ENST00000379163.5:c.1170A>G
  hgvsp: ENST00000379163.5:c.1170A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1171
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000454509
  gene symbol: Z83001.1
  hgvsc: ENST00000454509.1:n.343+3797T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000228061
  ensembl transcript: ENST00000434742
  gene symbol: Z83001.1
  hgvsc: ENST00000434742.1:n.343+3797T>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24293
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr486Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A

GenotypeQuality
all individuals: 959
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4892
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4181
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.636714786081377e-5
allele num: 61098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 1.0119e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.502e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 1.490299e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.288e0

QD
type: SiteQuality
SIO_000300: 3.35e0

GenotypeQuality
all individuals: 4216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2746
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10144
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.040149781568546e-4
allele num: 9614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.245e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

DP
type: SiteQuality
SIO_000300: 1.396305e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.58e-1

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15814
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.008674601573532e-4
allele num: 9914
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65248
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.492e1

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 7.074881e6

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 3.627e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 323
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531487380543984e-5
allele num: 65296
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.298022420959819e-5
allele num: 15878
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e0

MQ
type: SiteQuality
SIO_000300: 5.993e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.080268e6

QD
type: SiteQuality
SIO_000300: 1.453e1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e-1

ReadPosRankSum
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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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.228201295465869e-5
allele num: 16056
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65488
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.10099e6

VQSLOD
type: SiteQuality
SIO_000300: -9.548e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.142e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.958942240779402e-4
allele num: 8622
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: 0
allele frequency: 0.0e0
allele num: 65534
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 7.104291e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.581e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

QD
type: SiteQuality
SIO_000300: 1.327e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

African
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allele count: 3
allele frequency: 2.982107355864811e-4
allele num: 10060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65652
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 7.11102e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65822
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.222195062331948e-4
allele num: 16364
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: -1.226e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.875e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 1.095e0

VQSLOD
type: SiteQuality
SIO_000300: -1.992e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 7.1196e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 240
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.977066034005536e-4
allele num: 10116
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.118e0

FS
type: SiteQuality
SIO_000300: 2.444e0

DP
type: SiteQuality
SIO_000300: 7.1212e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 542
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variant carriers: 0

GenotypeQuality
all individuals: 23
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516714190377965e-5
allele num: 65932
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: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10142
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.367e0

FS
type: SiteQuality
SIO_000300: 1.0492e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.122683e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.406e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1429
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GenotypeQuality
all individuals: 203
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.2e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66216
num of homozygotes: 0

African
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allele num: 10224
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Latino
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allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.764e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.129195e6

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

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.130349e6

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

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

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

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

Other
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: -1.439e0

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

GenotypeQuality
all individuals: 1501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
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: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

FS
type: SiteQuality
SIO_000300: 5.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
SIO_000300: 5.99e1

DP
type: SiteQuality
SIO_000300: 7.131456e6

QD
type: SiteQuality
SIO_000300: 1.32e1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50859
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504890895410083e-5
allele num: 66450
num of homozygotes: 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: 16510
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: 10298
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.454e1

VQSLOD
type: SiteQuality
SIO_000300: -3.939e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.314e0

MQRankSum
type: SiteQuality
SIO_000300: -1.582e0

DP
type: SiteQuality
SIO_000300: 7.134254e6

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

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

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

GenotypeQuality
all individuals: 610
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 8.25e1
variant carriers: 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: 66596
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: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.778e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.933999999999999e0

QD
type: SiteQuality
SIO_000300: 1.389e1

MQRankSum
type: SiteQuality
SIO_000300: -1.776e0

DP
type: SiteQuality
SIO_000300: 7.137359e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 4.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 280
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
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: 5
allele frequency: 7.506155047138654e-5
allele num: 66612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

DP
type: SiteQuality
SIO_000300: 7.137539e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 5.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 5638
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
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

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: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 5.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

QD
type: SiteQuality
SIO_000300: 1.315e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.583e0

DP
type: SiteQuality
SIO_000300: 7.136935e6

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

GenotypeQuality
all individuals: 1565
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50867
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
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: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

DP
type: SiteQuality
SIO_000300: 7.137159e6

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.123e0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
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: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 7.137826e6

QD
type: SiteQuality
SIO_000300: 1.329e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeQuality
all individuals: 50869
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -4.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 5.617e0

MQ
type: SiteQuality
SIO_000300: 5.994e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 7.138038e6

QD
type: SiteQuality
SIO_000300: 1.664e1

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.380000000000001e0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 50869
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5698
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variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

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

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

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

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: 11578
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: 2
allele frequency: 2.99868058054456e-5
allele num: 66696
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 7.137973e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.371e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 570
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variant carriers: 0

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 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: 11578
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: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496476655971693e-5
allele num: 66698
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 4.22e-1

DP
type: SiteQuality
SIO_000300: 7.137872e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.81e0

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.004e0

QD
type: SiteQuality
SIO_000300: 1.377e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 624
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 7.137552e6

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.531e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5702
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 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: 10402
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: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 7.137552e6

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.19e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeQuality
all individuals: 625
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

FS
type: SiteQuality
SIO_000300: 3.675e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.228999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 7.137578e6

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

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

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

GenotypeQuality
all individuals: 5694
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.467e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 2.806e0

DP
type: SiteQuality
SIO_000300: 7.137576e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.205e0

MQRankSum
type: SiteQuality
SIO_000300: 6.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.786e-1

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51176
bin: 9.75e1
variant carriers: 2563

East Asian
type: Population
allele count: 1127
allele frequency: 1.302890173410405e-1
allele num: 8650
num of homozygotes: 84

Other
type: Population
allele count: 34
allele frequency: 3.744493392070485e-2
allele num: 908
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 43
allele frequency: 6.501360749924402e-3
allele num: 6614
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 867
allele frequency: 1.299538341627196e-2
allele num: 66716
num of homozygotes: 7

Latino
type: Population
allele count: 175
allele frequency: 1.511487303506651e-2
allele num: 11578
num of homozygotes: 3

African
type: Population
allele count: 307
allele frequency: 2.951355508556047e-2
allele num: 10402
num of homozygotes: 5

South Asian
type: Population
allele count: 120
allele frequency: 7.267441860465116e-3
allele num: 16512
num of homozygotes: 4

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.532e1

FS
type: SiteQuality
SIO_000300: 5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 7.151306e6

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 7.151306e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.67e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

QD
type: SiteQuality
SIO_000300: 1.532e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.77e-1

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

GenotypeQuality
all individuals: 51081
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 7.75e1
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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 2.547e0

MQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.943422e6

QD
type: SiteQuality
SIO_000300: 1.241e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 1554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5540
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51081
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 10402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.4e-1

FS
type: SiteQuality
SIO_000300: 2.547e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

DP
type: SiteQuality
SIO_000300: 6.943422e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

QD
type: SiteQuality
SIO_000300: 1.241e1

MQRankSum
type: SiteQuality
SIO_000300: 8.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51081
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 9.699999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.672e0

FS
type: SiteQuality
SIO_000300: 3.539e0

MQRankSum
type: SiteQuality
SIO_000300: -9.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.3e0

DP
type: SiteQuality
SIO_000300: 6.94336e6

VQSLOD
type: SiteQuality
SIO_000300: -4.963e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.333e1

GenotypeQuality
all individuals: 746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51081
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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: 66712
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

QD
type: SiteQuality
SIO_000300: 1.399e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 6.943224e6

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5534
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.99592277251469e-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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 6.943224e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.25e1
variant carriers: 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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
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: 10402
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.37e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

DP
type: SiteQuality
SIO_000300: 6.942688e6

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 235
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51083
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 744
bin: 7.75e1
variant carriers: 0

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

African
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allele count: 2
allele frequency: 1.92270717169775e-4
allele num: 10402
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 6.942688e6

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.484e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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variant carriers: 0

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.416e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.3e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.942526e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.92e0

FS
type: SiteQuality
SIO_000300: 7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.358e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5526
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.94267e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 6

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997781641585227e-5
allele num: 66716
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

European (Finnish)
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 2.509e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.942896e6

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.362e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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

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: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.93e-1

FS
type: SiteQuality
SIO_000300: 4.312e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.942673e6

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

QD
type: SiteQuality
SIO_000300: 1.445e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.175e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
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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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Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

East Asian
type: Population
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allele frequency: 1.155535012710885e-4
allele num: 8654
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

DP
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.892e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.319e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995563283170454e-5
allele num: 66716
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

DP
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MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51087
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11578
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.940167e6

MQ
type: SiteQuality
SIO_000300: 5.869e1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.723e1

FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.985e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: -1.02e0

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.33e0

InbreedingCoeff
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QD
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: NaN
allele num: 0
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African
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allele frequency: NaN
allele num: 0
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South Asian
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Latino
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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DP
type: SiteQuality
SIO_000300: 6.905e3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.012e-1

VQSLOD
type: SiteQuality
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QD
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MQ
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SIO_000300: 6.0e1

FS
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: NaN
allele num: 0
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East Asian
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele frequency: NaN
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European (Non-Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele frequency: NaN
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.516e1

DP
type: SiteQuality
SIO_000300: 7.936e3

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 127

GenotypeQuality
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variant carriers: 11

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 1.0e0
allele num: 2
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 5.871e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.971e-1

FS
type: SiteQuality
SIO_000300: 3.973e0

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

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: NaN
allele num: 0
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VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.83e-2

MQ
type: SiteQuality
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FS
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QD
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.631578947368421e-2
allele num: 38
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.329113924050633e-3
allele num: 158
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 876
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 278
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 998
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.075e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.0127e4

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.92e-2

QD
type: SiteQuality
SIO_000300: 1.416e1

MQ
type: SiteQuality
SIO_000300: 5.783e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.858045336306206e-4
allele num: 5382
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.18e1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 4.918e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

DP
type: SiteQuality
SIO_000300: 1.43763e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.893518518518518e-4
allele num: 3456
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.845699520118125e-4
allele num: 5418
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.102e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 1.44835e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.91e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.783803068141277e-4
allele num: 5606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.939e0

DP
type: SiteQuality
SIO_000300: 1.51168e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

FS
type: SiteQuality
SIO_000300: 1.0488e1

QD
type: SiteQuality
SIO_000300: 9.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.677e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.616431187859759e-4
allele num: 3822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4022
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.24606e5

QD
type: SiteQuality
SIO_000300: 6.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.091e0

VQSLOD
type: SiteQuality
SIO_000300: -1.174e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 27
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.218905472636816e-4
allele num: 1608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2084
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.33e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 1.09694e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.429e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.672e0

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

MQRankSum
type: SiteQuality
SIO_000300: -1.148e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.442e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1480
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10854
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.466103e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10888
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.209482341557813e-4
allele num: 8268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13758
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.105e0

DP
type: SiteQuality
SIO_000300: 1.481294e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 3.285e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.34e-1

MQRankSum
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele count: 1
allele frequency: 1.192463629859289e-4
allele num: 8386
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14346
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
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allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 8396
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.643439389955299e-5
allele num: 60848
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.282455276546857e-5
allele num: 60930
num of homozygotes: 0

East Asian
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Other
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Latino
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African
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South Asian
type: Population
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DP
type: SiteQuality
SIO_000300: 1.616967e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.405002405002405e-4
allele num: 8316
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European (Finnish)
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.231122168729199e-5
allele num: 61898
num of homozygotes: 0

FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.649995e6

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

GenotypeQuality
all individuals: 2546
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9589
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596576939042693e-5
allele num: 62634
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.679864e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

MQRankSum
type: SiteQuality
SIO_000300: -1.383e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.97e-2

QD
type: SiteQuality
SIO_000300: 1.394e1

GenotypeQuality
all individuals: 3170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3892
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9589
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
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: 8488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596118240439252e-5
allele num: 62652
num of homozygotes: 0