http://identifiers.org/exac.variant/18-21752456-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752456
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752456
    reference: chr 18
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-9G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-9G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-9G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-9G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-9G>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36710
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

18-21752475-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752475
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752475
    reference: chr 18
allele count: 2
allele frequency: 1.659668398254029e-5
allele num: 120506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-28T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-28T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-28T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-28T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-28T>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7885
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1801
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
  all individuals: 1722
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

18-21752476-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752476
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752476
    reference: chr 18
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-29A>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-29A>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-29A>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-29A>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-29A>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30475
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

18-21752476-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752476
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752476
    reference: chr 18
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-29A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-29A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-29A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-29A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-29A>G
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

18-21752476-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752476
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752475
    reference: chr 18
allele count: 1
allele frequency: 8.302613662781043e-6
allele num: 120444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-30delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-30delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-30delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-30delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-30delT
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: TA
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

18-21752490-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752490
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752490
    reference: chr 18
allele count: 1
allele frequency: 8.356592515835743e-6
allele num: 119666
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-43G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-43G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-43G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-43G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-43G>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4035
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

18-21752491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752491
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752491
    reference: chr 18
allele count: 2
allele frequency: 1.672464543751672e-5
allele num: 119584
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-44T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-44T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-44T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-44T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-44T>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12983
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5230
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15241
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

18-21752494-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752494
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752494
    reference: chr 18
allele count: 2
allele frequency: 1.674733298722178e-5
allele num: 119422
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-47A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-47A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-47A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-47A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-47A>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11651
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2680
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

18-21752499-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21752499
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21752498
    reference: chr 18
allele count: 4
allele frequency: 3.367683707146225e-5
allele num: 118776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-53delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.99-53delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.555-53delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.948-53delT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2094-53delT
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17224
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5783
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: TA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

18-21757928-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757928
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757928
    reference: chr 18
allele count: 1
allele frequency: 8.815077308227993e-6
allele num: 113442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+49A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+49A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+49A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1774A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5481A>G
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-21757930-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757930
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757930
    reference: chr 18
allele count: 1
allele frequency: 8.832517797523362e-6
allele num: 113218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+47G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5483G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+47G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1772G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+47G>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

18-21757936-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757936
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757936
    reference: chr 18
allele count: 1
allele frequency: 8.78966335589347e-6
allele num: 113770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+41C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+41C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5489C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1766C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+41C>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7775
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2551
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

18-21757938-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757938
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757938
    reference: chr 18
allele count: 1038
allele frequency: 9.418554006968642e-3
allele num: 110208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5491A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1764A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+39A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+39A>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+39A>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 3.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 7342
  bin: 1.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 18401
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 8959
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 2.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 9.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 4.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.25e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1674
  bin: 5.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.25e1
  variant carriers: 45
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 4.25e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 6296
  bin: 6.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 2.5e0
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 8.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 3.75e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 19634
  bin: 6.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 2.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 1.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 5.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 2.75e1
  variant carriers: 36
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

18-21757947-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757947
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757944
    reference: chr 18
allele count: 2
allele frequency: 1.739856635813209e-5
allele num: 114952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+27_554+29delCTT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+27_2093+29delCTT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5503_139-5501delCTT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+27_947+29delCTT
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1752_98+1754delCTT
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11259
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: AAAG
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/18-21757948-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757948
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757948
    reference: chr 18
allele count: 1
allele frequency: 8.687795385043092e-6
allele num: 115104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1754T>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+29T>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+29T>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5501T>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+29T>G
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

18-21757950-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757950
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757950
    reference: chr 18
allele count: 2
allele frequency: 1.735900151023313e-5
allele num: 115214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+27C>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5503C>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+27C>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1752C>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+27C>G
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24223
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

18-21757951-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757951
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757951
    reference: chr 18
allele count: 1
allele frequency: 8.666262241095416e-6
allele num: 115390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+26T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+26T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5504T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1751T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+26T>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29318
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

18-21757954-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757954
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757954
    reference: chr 18
allele count: 1
allele frequency: 8.806848205164336e-6
allele num: 113548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+23C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+23C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+23C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5507C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1748C>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2828
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

18-21757964-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757964
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757964
    reference: chr 18
allele count: 1333
allele frequency: 1.478581094571511e-2
allele num: 90154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5517C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+13C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+13C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+13C>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1738C>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 147
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 1.75e1
  variant carriers: 154
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 14421
  bin: 2.75e1
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.75e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.25e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 17399
  bin: 2.25e1
  variant carriers: 257
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 10020
  bin: 2.5e0
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 3599
  bin: 2.25e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 5.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 1.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 18690
  bin: 6.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 3.25e1
  variant carriers: 80
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 7.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 2.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 8.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 9.75e1
  variant carriers: 425
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 7.5e0
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 1.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 4.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 3.75e1
  variant carriers: 93
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

18-21757965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757965
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757965
    reference: chr 18
allele count: 3
allele frequency: 2.575770584699923e-5
allele num: 116470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+12T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5518T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+12T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+12T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1737T>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27008
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-21757965-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757965
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757965
    reference: chr 18
allele count: 16
allele frequency: 1.373744311839959e-4
allele num: 116470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1737T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5518T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+12T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+12T>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+12T>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17546
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4414
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3197
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

18-21757967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757967
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757967
    reference: chr 18
allele count: 8
allele frequency: 6.808510638297873e-5
allele num: 117500
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+10G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+10G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+10G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1735G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5520G>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14942
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28724
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

18-21757971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757971
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757971
    reference: chr 18
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+6T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+6T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+6T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5524T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1731T>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2093+6T>C
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/18-21757972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757972
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757972
    reference: chr 18
allele count: 24
allele frequency: 2.037835818360901e-4
allele num: 117772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1730G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.947+5G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.554+5G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5525G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2093+5G>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4965
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15633
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9501
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19052
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30541
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.25e1
  variant carriers: 1
hgvs: c.2093+5G>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-21757988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21757988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21757988
    reference: chr 18
allele count: 5
allele frequency: 4.131685066437496e-5
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1714G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2082G>A
  hgvsp: ENST00000319481.3:c.2082G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.936G>A
  hgvsp: ENST00000357041.4:c.936G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5541G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.543G>A
  hgvsp: ENST00000399443.3:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12638
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Leu694Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

18-21758015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758015
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758015
    reference: chr 18
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.909A>G
  hgvsp: ENST00000357041.4:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.516A>G
  hgvsp: ENST00000399443.3:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1687A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2055A>G
  hgvsp: ENST00000319481.3:c.2055A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5568A>G
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu685Glu
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

18-21758020-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758020
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758020
    reference: chr 18
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.904G>C
  hgvsp: ENSP00000349545.4:p.Val302Leu
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5573G>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1682G>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2050G>C
  hgvsp: ENSP00000320291.3:p.Val684Leu
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.511G>C
  hgvsp: ENSP00000382372.3:p.Val171Leu
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12856
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val684Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-21758029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758029
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758029
    reference: chr 18
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.895G>T
  hgvsp: ENSP00000349545.4:p.Gly299Trp
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.502G>T
  hgvsp: ENSP00000382372.3:p.Gly168Trp
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5582G>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2041G>T
  hgvsp: ENSP00000320291.3:p.Gly681Trp
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1673G>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly681Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

18-21758040-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758040
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758040
    reference: chr 18
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2030T>C
  hgvsp: ENSP00000320291.3:p.Leu677Pro
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.491T>C
  hgvsp: ENSP00000382372.3:p.Leu164Pro
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.884T>C
  hgvsp: ENSP00000349545.4:p.Leu295Pro
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5593T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1662T>C
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12855
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36054
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu677Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

18-21758053-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758053
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758053
    reference: chr 18
allele count: 6
allele frequency: 4.942095118857387e-5
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.871A>G
  hgvsp: ENSP00000349545.4:p.Ile291Val
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5606A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.478A>G
  hgvsp: ENSP00000382372.3:p.Ile160Val
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1649A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2017A>G
  hgvsp: ENSP00000320291.3:p.Ile673Val
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 6
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: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  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
hgvs: p.Ile673Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

18-21758054-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758054
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758054
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5607T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.870T>C
  hgvsp: ENST00000357041.4:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2016T>C
  hgvsp: ENST00000319481.3:c.2016T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1648T>C
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.477T>C
  hgvsp: ENST00000399443.3:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  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: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser672Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/17-29647364-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647364
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647365
    reference: chr 17
allele count: 1
allele frequency: 1.766035603277762e-5
allele num: 56624
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1148_-11+1149insG
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5474_4836-5473insC
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.59+26_59+27insG
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5474_3771-5473insC
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5474_*1-5473insC
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5474_3309-5473insC
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1782_152+1783insC
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+610_-11+611insG
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5474_4773-5473insC
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13814
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5657
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

17-29647365-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647365
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647365
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 70426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5473A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5473A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5473A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5473A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1148T>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+610T>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.59+26T>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5473A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1783A>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13979
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6405
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

17-29647392-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647392
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647392
    reference: chr 17
allele count: 6
allele frequency: 5.309170707535483e-5
allele num: 113012
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5446T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5446T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1121A>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5446T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5446T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.58A>G
  hgvsp: ENSP00000247270.3:p.Arg20Gly
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+583A>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5446T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1810T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg20Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

18-21758057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758057
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758057
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5610C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.2013C>T
  hgvsp: ENST00000319481.3:c.2013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.867C>T
  hgvsp: ENST00000357041.4:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1645C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.474C>T
  hgvsp: ENST00000399443.3:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  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: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly671Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

18-21758099-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758099
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758099
    reference: chr 18
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1603A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.1971A>G
  hgvsp: ENST00000319481.3:c.1971A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.432A>G
  hgvsp: ENST00000399443.3:c.432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5652A>G
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.825A>G
  hgvsp: ENST00000357041.4:c.825A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3728
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36057
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala657Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

18-21758105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758105
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758105
    reference: chr 18
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1597C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.1965C>T
  hgvsp: ENST00000319481.3:c.1965C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.426C>T
  hgvsp: ENST00000399443.3:c.426C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.819C>T
  hgvsp: ENST00000357041.4:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5658C>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12858
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile655Ile
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

18-21758123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758123
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758123
    reference: chr 18
allele count: 5
allele frequency: 4.11868399808893e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.1947C>T
  hgvsp: ENST00000319481.3:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.801C>T
  hgvsp: ENST00000357041.4:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.408C>T
  hgvsp: ENST00000399443.3:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5676C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1579C>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Val649Val
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

18-21758132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758132
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758132
    reference: chr 18
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5685C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.1938C>T
  hgvsp: ENST00000319481.3:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1570C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.399C>T
  hgvsp: ENST00000399443.3:c.399C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.792C>T
  hgvsp: ENST00000357041.4:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5540
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3719
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser646Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

18-21758149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758149
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758149
    reference: chr 18
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.1921G>A
  hgvsp: ENSP00000320291.3:p.Gly641Arg
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.775G>A
  hgvsp: ENSP00000349545.4:p.Gly259Arg
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.382G>A
  hgvsp: ENSP00000382372.3:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5702G>A
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1553G>A
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12743
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly641Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

18-21758152-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21758152
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 21758152
    reference: chr 18
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000382372
  ensembl transcript: ENST00000399443
  gene symbol: OSBPL1A
  hgvsc: ENST00000399443.3:c.379C>T
  hgvsp: ENSP00000382372.3:p.Leu127Phe
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000320291
  ensembl transcript: ENST00000319481
  gene symbol: OSBPL1A
  hgvsc: ENST00000319481.3:c.1918C>T
  hgvsp: ENSP00000320291.3:p.Leu640Phe
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000349545
  ensembl transcript: ENST00000357041
  gene symbol: OSBPL1A
  hgvsc: ENST00000357041.4:c.772C>T
  hgvsp: ENSP00000349545.4:p.Leu258Phe
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000462155
  ensembl transcript: ENST00000578055
  gene symbol: OSBPL1A
  hgvsc: ENST00000578055.1:c.139-5705C>T
  variant of: http://identifiers.org/hgnc/16398
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141447
  ensembl protein: ENSP00000464617
  ensembl transcript: ENST00000578013
  gene symbol: OSBPL1A
  hgvsc: ENST00000578013.1:c.98+1550C>T
  variant of: http://identifiers.org/hgnc/16398
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu640Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

17-29647393-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647393
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647393
    reference: chr 17
allele count: 1
allele frequency: 8.798634451933061e-6
allele num: 113654
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1811A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.57T>C
  hgvsp: ENST00000247270.3:c.57T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5445A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1120T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5445A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+582T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5445A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5445A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5445A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 7.75e1
  variant carriers: 0
hgvs: c.57T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

17-29647394-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647394
    reference: chr 17
allele count: 1
allele frequency: 8.764241893076249e-6
allele num: 114100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1119C>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.56C>G
  hgvsp: ENSP00000247270.3:p.Ala19Gly
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5444G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1812G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5444G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5444G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5444G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5444G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+581C>G
  variant of: http://identifiers.org/hgnc/3499
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala19Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

17-29647395-C-CTAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647395
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647398
    reference: chr 17
allele count: 2
allele frequency: 1.744622202062143e-5
allele num: 114638
alternate allele: CTAG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5440_*1-5438dupGTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1816_152+1818dupGTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5440_4836-5438dupGTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+577_-11+579dupCTA
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1115_-11+1117dupCTA
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.52_54dupCTA
  hgvsp: ENSP00000247270.3:p.Leu18dup
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5440_3309-5438dupGTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5440_3771-5438dupGTA
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5440_4773-5438dupGTA
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu18dup
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-29647398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647398
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647398
    reference: chr 17
allele count: 1
allele frequency: 8.633491038436302e-6
allele num: 115828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5440G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1816G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.52C>T
  hgvsp: ENST00000247270.3:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+577C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5440G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1115C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5440G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5440G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5440G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu18Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

17-29647400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647400
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647400
    reference: chr 17
allele count: 1
allele frequency: 8.58663918942126e-6
allele num: 116460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5438A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1113T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1818A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.50T>C
  hgvsp: ENSP00000247270.3:p.Ile17Thr
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5438A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5438A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+575T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5438A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5438A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile17Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

17-29647408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647408
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647408
    reference: chr 17
allele count: 1
allele frequency: 8.464676903282601e-6
allele num: 118138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+567C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5430G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.42C>T
  hgvsp: ENST00000247270.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5430G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1826G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5430G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5430G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1105C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5430G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3040
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala14Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

17-29647413-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647413
    reference: chr 17
allele count: 4
allele frequency: 3.365303718660609e-5
allele num: 118860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1100C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.37C>T
  hgvsp: ENSP00000247270.3:p.Gln13Ter
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5425G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1831G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5425G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5425G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+562C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5425G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5425G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33787
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln13Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

17-29647413-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647413
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647413
    reference: chr 17
allele count: 1
allele frequency: 8.413259296651523e-6
allele num: 118860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1831G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1100C>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5425G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.37C>G
  hgvsp: ENSP00000247270.3:p.Gln13Glu
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5425G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5425G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5425G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+562C>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5425G>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln13Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

17-29647423-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647423
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647423
    reference: chr 17
allele count: 4
allele frequency: 3.345432648077213e-5
allele num: 119566
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5415G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5415G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5415G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5415G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5415G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1090C>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+552C>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1841G>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.27C>G
  hgvsp: ENSP00000247270.3:p.Asn9Lys
  variant of: http://identifiers.org/hgnc/3499
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn9Lys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

17-29647430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647430
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647430
    reference: chr 17
allele count: 4
allele frequency: 3.338340844600234e-5
allele num: 119820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1083T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+545T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1848A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5408A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5408A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.20T>C
  hgvsp: ENSP00000247270.3:p.Phe7Ser
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5408A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5408A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5408A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Phe7Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

17-29647432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647432
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647432
    reference: chr 17
allele count: 4
allele frequency: 3.33672567109895e-5
allele num: 119878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1850C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+543G>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5406C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5406C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.18G>A
  hgvsp: ENSP00000247270.3:p.Trp6Ter
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1081G>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5406C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5406C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5406C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Trp6Ter
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/17-29647435-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647435
    reference: chr 17
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1078T>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5403A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+540T>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.15T>G
  hgvsp: ENSP00000247270.3:p.Ser5Arg
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5403A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5403A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5403A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5403A>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1853A>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3078
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser5Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-29647435-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647435
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647435
    reference: chr 17
allele count: 1
allele frequency: 8.337502084375522e-6
allele num: 119940
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.15T>C
  hgvsp: ENST00000247270.3:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5403A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5403A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5403A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5403A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+540T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1853A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1078T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5403A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser5Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-29647441-AAGCAACATGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647441
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647431
    reference: chr 17
allele count: 2
allele frequency: 1.666111296234588e-5
allele num: 120040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: coding_sequence_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-2_8delCCATGTTGCT
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: coding sequence
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3385
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9989
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: AAGCAACATGG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-29647448-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647448
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647448
    reference: chr 17
allele count: 1
allele frequency: 8.326256015719971e-6
allele num: 120102
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5390A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.2T>C
  hgvsp: ENSP00000247270.3:p.Met1?
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5390A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5390A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5390A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1065T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1866A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+527T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5390A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36796
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

17-29647449-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647449
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647449
    reference: chr 17
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5389T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+526A>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5389T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1064A>G
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1867T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5389T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.1A>G
  hgvsp: ENSP00000247270.3:p.Met1?
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5389T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5389T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-29647462-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647462
    reference: chr 17
allele count: 4
allele frequency: 3.331112591605596e-5
allele num: 120080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+513A>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5376T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5376T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1051A>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5376T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5376T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1880T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5376T>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-13A>C
  variant of: http://identifiers.org/hgnc/3499
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36234
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

17-29647466-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647466
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647466
    reference: chr 17
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+509G>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5372C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5372C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1047G>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-17G>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1884C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5372C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5372C>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5372C>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-29647467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647467
    reference: chr 17
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1885A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-18T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1046T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5371A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5371A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+508T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5371A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5371A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5371A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-29647468-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647468
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647468
    reference: chr 17
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-19C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5370G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1886G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1045C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5370G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5370G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5370G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+507C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5370G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-29647470-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647470
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647470
    reference: chr 17
allele count: 72
allele frequency: 5.998200539838049e-4
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5368C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+505G>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1888C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1043G>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5368C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-21G>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5368C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5368C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5368C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32975
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

17-29647479-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647479
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647479
    reference: chr 17
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5359A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1897A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5359A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1034T>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+496T>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-30T>A
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5359A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5359A>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5359A>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD

17-29647485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647485
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647485
    reference: chr 17
allele count: 25
allele frequency: 2.08277792588643e-4
allele num: 120032
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-36C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5353G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5353G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5353G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5353G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1028C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+490C>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5353G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1903G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31251
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12354
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 9.75e1
  variant carriers: 24
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

17-29647491-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647491
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647491
    reference: chr 17
allele count: 1
allele frequency: 8.334722453742291e-6
allele num: 119980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+484A>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-42A>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5347T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5347T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5347T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5347T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1909T>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1022A>T
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5347T>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-29647497-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29647497
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29647497
    reference: chr 17
allele count: 3
allele frequency: 2.501042100875365e-5
allele num: 119950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-5341A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-5341A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-5341A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-5341A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000418064
  ensembl transcript: ENST00000461237
  gene symbol: EVI2A
  hgvsc: ENST00000461237.1:c.-11+478T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000247270
  ensembl transcript: ENST00000247270
  gene symbol: EVI2A
  hgvsc: ENST00000247270.3:c.-48T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.152+1915A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126860
  ensembl protein: ENSP00000420557
  ensembl transcript: ENST00000462804
  gene symbol: EVI2A
  hgvsc: ENST00000462804.2:c.-11+1016T>C
  variant of: http://identifiers.org/hgnc/3499
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-5341A>G
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-29652817-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29652817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29652818
    reference: chr 17
allele count: 4
allele frequency: 3.328008519701811e-5
allele num: 120192
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-15dupT
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-15dupT
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-15dupT
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.153-15dupT
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-15dupT
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-15dupT
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

17-29652817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29652817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29652817
    reference: chr 17
allele count: 5
allele frequency: 4.160010649627263e-5
allele num: 120192
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-21C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-21C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.153-21C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-21C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-21C>T
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-21C>T
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3723
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum

17-29652824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29652824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29652824
    reference: chr 17
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-14G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-14G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.153-14G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-14G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-14G>A
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-14G>A
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15967
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-29652835-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29652835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29652835
    reference: chr 17
allele count: 3
allele frequency: 2.479215906649257e-5
allele num: 121006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*1-3T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.153-3T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3309-3T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3771-3T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4836-3T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4773-3T>C
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18419
  bin: 6.25e1
  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: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
hgvs: c.4836-3T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-29652847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29652847
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29652847
    reference: chr 17
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4782T>C
  hgvsp: ENST00000356175.3:c.4782T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.162T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*10T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4845T>C
  hgvsp: ENST00000358273.4:c.4845T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3318T>C
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3780T>C
  hgvsp: ENST00000456735.2:c.3780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18554
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1615Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-29652853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 29652853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 29652853
    reference: chr 17
allele count: 12
allele frequency: 9.897233723174372e-5
allele num: 121246
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000351015
  ensembl transcript: ENST00000358273
  gene symbol: NF1
  hgvsc: ENST00000358273.4:c.4851A>G
  hgvsp: ENST00000358273.4:c.4851A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000581113
  gene symbol: NF1
  hgvsc: ENST00000581113.2:n.168A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000462408
  ensembl transcript: ENST00000579081
  gene symbol: NF1
  hgvsc: ENST00000579081.1:c.*16A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000348498
  ensembl transcript: ENST00000356175
  gene symbol: NF1
  hgvsc: ENST00000356175.3:c.4788A>G
  hgvsp: ENST00000356175.3:c.4788A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000196712
  ensembl transcript: ENST00000493220
  gene symbol: NF1
  hgvsc: ENST00000493220.1:n.3324A>G
  variant of: http://identifiers.org/hgnc/7765
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000196712
  ensembl protein: ENSP00000389907
  ensembl transcript: ENST00000456735
  gene symbol: NF1
  hgvsc: ENST00000456735.2:c.3786A>G
  hgvsp: ENST00000456735.2:c.3786A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7765
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4540
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3733
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln1617Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A

GenotypeQuality
all individuals: 1832
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2418
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6057
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
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: 16438
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.825399e6

QD
type: SiteQuality
SIO_000300: 4.26e0

MQ
type: SiteQuality
SIO_000300: 5.782e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.469e0

FS
type: SiteQuality
SIO_000300: 2.4207e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.245e0

VQSLOD
type: SiteQuality
SIO_000300: -6.662e0

GenotypeQuality
all individuals: 835
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6052
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.66183574879227e-5
allele num: 10350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510117789187557e-5
allele num: 66220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.423e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

FS
type: SiteQuality
SIO_000300: 1.0296e1

MQRankSum
type: SiteQuality
SIO_000300: -8.7e-1

DP
type: SiteQuality
SIO_000300: 1.771994e6

QD
type: SiteQuality
SIO_000300: 1.438e1

GenotypeQuality
all individuals: 2296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6054
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7002
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511030522816561e-5
allele num: 66180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.764692e6

QD
type: SiteQuality
SIO_000300: 9.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

FS
type: SiteQuality
SIO_000300: 1.927e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 1937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.665571235260003e-5
allele num: 10346
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 1.927e0

DP
type: SiteQuality
SIO_000300: 1.764692e6

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 3.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.58e-1

FS
type: SiteQuality
SIO_000300: 1.927e0

QD
type: SiteQuality
SIO_000300: 9.5e0

VQSLOD
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.764692e6

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5068
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6041
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.669767e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.467e0

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.47e-1

GenotypeQuality
all individuals: 5182
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1754
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.753155680224404e-4
allele num: 11408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

VQSLOD
type: SiteQuality
SIO_000300: -3.724e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.988e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.89e-1

DP
type: SiteQuality
SIO_000300: 1.662396e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.704e1

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

GenotypeQuality
all individuals: 824
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3158
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.941747572815534e-4
allele num: 10300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.656337e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

FS
type: SiteQuality
SIO_000300: 1.344e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.816e1

GenotypeQuality
all individuals: 826
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6026
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3301
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4859
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6046
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.482929857231533e-4
allele num: 16110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.649829e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.098e1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
all individuals: 282
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5068
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12906
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.587351979427918e-5
allele num: 62998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

FS
type: SiteQuality
SIO_000300: 1.738e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

DP
type: SiteQuality
SIO_000300: 1.503883e6

GenotypeQuality
all individuals: 4317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15115
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4846
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.218917601170161e-4
allele num: 8204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62924
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.884e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.510289e6

GenotypeQuality
all individuals: 2808
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 237
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.968609865470852e-5
allele num: 11150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63136
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10198
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.676e1

VQSLOD
type: SiteQuality
SIO_000300: -7.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.564e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.544588e6

FS
type: SiteQuality
SIO_000300: 4.337e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.479e0

GenotypeQuality
all individuals: 2798
bin: 4.75e1
variant carriers: 39

GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 38

GenotypeQuality
all individuals: 502
bin: 7.5e0
variant carriers: 30

GenotypeQuality
all individuals: 1861
bin: 9.75e1
variant carriers: 378

GenotypeQuality
all individuals: 4148
bin: 3.25e1
variant carriers: 48

East Asian
type: Population
allele count: 20
allele frequency: 2.463054187192118e-3
allele num: 8120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 137
allele frequency: 2.329139748384903e-2
allele num: 5882
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 7.266121707538601e-4
allele num: 11010
num of homozygotes: 0

African
type: Population
allele count: 221
allele frequency: 2.285418821096174e-2
allele num: 9670
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.41025641025641e-2
allele num: 780
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.181818181818182e-4
allele num: 13750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 638
allele frequency: 1.045970227555905e-2
allele num: 60996
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.518854e6

VQSLOD
type: SiteQuality
SIO_000300: -9.135e0

MQ
type: SiteQuality
SIO_000300: 5.888e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 4.2185e1

QD
type: SiteQuality
SIO_000300: 9.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.809e0

GenotypeQuality
all individuals: 705
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2881
bin: 3.25e1
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GenotypeQuality
all individuals: 724
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138534931893792e-5
allele num: 63724
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.157e0

FS
type: SiteQuality
SIO_000300: 3.096e0

MQ
type: SiteQuality
SIO_000300: 5.686e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 1.736e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.591861e6

GenotypeQuality
all individuals: 1634
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1748
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14180
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: -8.228e-1

DP
type: SiteQuality
SIO_000300: 1.598782e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.874e1

GenotypeQuality
all individuals: 8273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1910
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28414
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11270
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63838
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.406271972999578e-4
allele num: 14222
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.551e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.609177e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

GenotypeQuality
all individuals: 2541
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2991
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563232765358762e-5
allele num: 63970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14238
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.268e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 6.851e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 1.614502e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.451e0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3447
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.208021261174197e-4
allele num: 8278
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6066
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: 62918
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.136e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.663324e6

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.867e1

VQSLOD
type: SiteQuality
SIO_000300: -1.053e0

GenotypeQuality
all individuals: 1250
bin: 7.75e1
variant carriers: 31

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 25

GenotypeQuality
all individuals: 2013
bin: 4.75e1
variant carriers: 97

GenotypeQuality
all individuals: 4511
bin: 6.75e1
variant carriers: 45

GenotypeQuality
all individuals: 1980
bin: 5.25e1
variant carriers: 77

European (Finnish)
type: Population
allele count: 141
allele frequency: 4.196428571428571e-2
allele num: 3360
num of homozygotes: 0

East Asian
type: Population
allele count: 119
allele frequency: 1.888888888888889e-2
allele num: 6300
num of homozygotes: 0

South Asian
type: Population
allele count: 41
allele frequency: 3.227329974811083e-3
allele num: 12704
num of homozygotes: 0

Latino
type: Population
allele count: 217
allele frequency: 2.878747678429291e-2
allele num: 7538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 588
allele frequency: 1.124368976594768e-2
allele num: 52296
num of homozygotes: 0

Other
type: Population
allele count: 13
allele frequency: 2.096774193548387e-2
allele num: 620
num of homozygotes: 0

African
type: Population
allele count: 214
allele frequency: 2.917121046892039e-2
allele num: 7336
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.628e0

QD
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

FS
type: SiteQuality
SIO_000300: 7.814e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.785e1

DP
type: SiteQuality
SIO_000300: 1.744351e6

GenotypeQuality
all individuals: 3425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 3.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551012811365822e-5
allele num: 64474
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.847991505928154e-5
allele num: 11302
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.644195988161789e-4
allele num: 6082
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

VQSLOD
type: SiteQuality
SIO_000300: -1.03e1

QD
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.178e0

DP
type: SiteQuality
SIO_000300: 1.723021e6

FS
type: SiteQuality
SIO_000300: 4.4392e1

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

GenotypeQuality
all individuals: 213
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 514
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 27008
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 542
bin: 9.25e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 8.220979940808945e-4
allele num: 6082
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.94399526720568e-4
allele num: 10142
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.847991505928154e-5
allele num: 11302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.755064056829109e-5
allele num: 64474
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.4392e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

DP
type: SiteQuality
SIO_000300: 1.723021e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.178e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.03e1

QD
type: SiteQuality
SIO_000300: 2.5e0

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 5.892e1

GenotypeQuality
all individuals: 1033
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3242
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10373
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537941004583064e-5
allele num: 65022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 8.017960230917255e-4
allele num: 6236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.819897689186806e-5
allele num: 11338
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.512112529304507e-5
allele num: 15356
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

DP
type: SiteQuality
SIO_000300: 1.739735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.54e0

FS
type: SiteQuality
SIO_000300: 2.8471e1

MQ
type: SiteQuality
SIO_000300: 5.705e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

QD
type: SiteQuality
SIO_000300: 4.33e0

VQSLOD
type: SiteQuality
SIO_000300: -6.692e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 126
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32421
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522533495736906e-5
allele num: 65680
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.773268e6

MQRankSum
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
SIO_000300: 1.762e1

GenotypeQuality
all individuals: 415
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1004
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 946
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1033
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 10650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 8
allele frequency: 7.084661707403471e-4
allele num: 11292
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.75800156128025e-5
allele num: 10248
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.536067892503536e-4
allele num: 8484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.223503502278775e-4
allele num: 65386
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.28633907898122e-4
allele num: 15548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.362474781439139e-4
allele num: 5948
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.078e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.025e0

FS
type: SiteQuality
SIO_000300: 1.9904e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

QD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.788747e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

GenotypeQuality
all individuals: 45
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
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: 5
allele frequency: 7.516084420660213e-5
allele num: 66524
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 3.592e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.689e0

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 1.849203e6

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

GenotypeQuality
all individuals: 1718
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

QD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.871643e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.86e-1

GenotypeQuality
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variant carriers: 3

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: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66730
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.872072e6

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 1.158e0

BaseQRankSum
type: SiteQuality
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QD
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 (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8654
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.944e1

ReadPosRankSum
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SIO_000300: -4.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 1.872183e6

BaseQRankSum
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.12e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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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 frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.872249e6

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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

Other
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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

African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.492208103572285e-5
allele num: 66736
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.36e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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MQ
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MQRankSum
type: SiteQuality
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DP
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QD
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 10406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
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
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.365870077415012e-5
allele num: 29710
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4554
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
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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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MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 644
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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FS
type: SiteQuality
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DP
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 61638
num of homozygotes: 0

East Asian
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South Asian
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allele num: 15568
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Other
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South Asian
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Latino
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European (Non-Finnish)
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allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

East Asian
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African
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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VQSLOD
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MQ
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ClippingRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

GenotypeQuality
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bin: 4.75e1
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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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.123e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.806e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.934e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

DP
type: SiteQuality
SIO_000300: 1.87253e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.49265719594797e-5
allele num: 66732
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: 16508
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 1.872555e6

FS
type: SiteQuality
SIO_000300: 5.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.008e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.26e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.752e-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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variant carriers: 0

South Asian
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allele count: 4
allele frequency: 2.42306760358614e-4
allele num: 16508
num of homozygotes: 0

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

East Asian
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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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.261e0

MQRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

FS
type: SiteQuality
SIO_000300: 1.0517e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

DP
type: SiteQuality
SIO_000300: 1.872377e6

GenotypeQuality
all individuals: 10
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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: 24
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variant carriers: 0

East Asian
type: Population
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: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
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: 16494
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.395e0

QD
type: SiteQuality
SIO_000300: 2.819e1

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.885e1

VQSLOD
type: SiteQuality
SIO_000300: -3.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 1.875202e6

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

Other
type: Population
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: 8654
num of homozygotes: 0

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.35e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.870988e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

QD
type: SiteQuality
SIO_000300: 2.825e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

FS
type: SiteQuality
SIO_000300: 1.089e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-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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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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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8074
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.18105031215571e-5
allele num: 10892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15658
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.544261e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

VQSLOD
type: SiteQuality
SIO_000300: -2.345e0

QD
type: SiteQuality
SIO_000300: 2.598e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

GenotypeQuality
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bin: 1.25e1
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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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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GenotypeQuality
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GenotypeQuality
all individuals: 148
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10908
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027960526315789e-4
allele num: 9728
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.738e1

DP
type: SiteQuality
SIO_000300: 1.551678e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.194e0

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.552e0

VQSLOD
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SIO_000300: -3.201e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62670
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.825817053131276e-4
allele num: 10954
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6454
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East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15784
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.576342255430499e-5
allele num: 63438
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6470
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African
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East Asian
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South Asian
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.889e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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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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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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.567054251418184e-5
allele num: 63814
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

FS
type: SiteQuality
SIO_000300: 1.455e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

QD
type: SiteQuality
SIO_000300: 1.294e1

DP
type: SiteQuality
SIO_000300: 1.583556e6

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.301e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.541212009123975e-5
allele num: 64884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.48e-1

FS
type: SiteQuality
SIO_000300: 1.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

QD
type: SiteQuality
SIO_000300: 1.194e1

DP
type: SiteQuality
SIO_000300: 1.60706e6

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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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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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
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allele count: 4
allele frequency: 2.451280794214978e-4
allele num: 16318
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

FS
type: SiteQuality
SIO_000300: 3.201e0

DP
type: SiteQuality
SIO_000300: 1.616752e6

QD
type: SiteQuality
SIO_000300: 8.85e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530268715186387e-5
allele num: 65348
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.85e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-1

DP
type: SiteQuality
SIO_000300: 1.616752e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

FS
type: SiteQuality
SIO_000300: 3.201e0

VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.441704309608106e-4
allele num: 16382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65782
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.564e0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 1.625252e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-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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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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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.067961165048543e-5
allele num: 65920
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 904
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.047851264858275e-4
allele num: 6562
num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.032324580023046e-5
allele num: 65956
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South Asian
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African
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East Asian
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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FS
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DP
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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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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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European (Finnish)
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num of homozygotes: 0

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

European (Finnish)
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allele num: 6562
num of homozygotes: 0

Latino
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East Asian
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Other
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 1.515335192144502e-5
allele num: 65992
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DP
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.758396342535608e-4
allele num: 11374
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66036
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

VQSLOD
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SIO_000300: -6.87e-2

BaseQRankSum
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MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.630419e6

InbreedingCoeff
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SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.3e0

FS
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SIO_000300: 1.457e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

MQ
type: SiteQuality
SIO_000300: 5.292e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.09e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.04e-1

QD
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SIO_000300: 8.039999999999999e0

BaseQRankSum
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SIO_000300: -2.49e-1

ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.471e0

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.630642e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

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
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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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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: 6568
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513683700653911e-5
allele num: 66064
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.271e1

FS
type: SiteQuality
SIO_000300: 2.485e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.630255e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.055834796826743e-5
allele num: 66052
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

FS
type: SiteQuality
SIO_000300: 1.855e0

QD
type: SiteQuality
SIO_000300: 1.219e1

DP
type: SiteQuality
SIO_000300: 1.628057e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10252
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513912859175826e-5
allele num: 66054
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.941e1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

FS
type: SiteQuality
SIO_000300: 9.454000000000001e0

BaseQRankSum
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DP
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SIO_000300: 1.627158e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

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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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: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.084945843981989e-5
allele num: 16434
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66050
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East Asian
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DP
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QD
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VQSLOD
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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East Asian
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allele count: 0
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allele num: 8484
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.788890841975742e-5
allele num: 11378
num of homozygotes: 0

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66048
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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DP
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QD
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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allele frequency: 4.259980525803311e-3
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66020
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-5
allele num: 66040
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
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: -1.111e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.292e-1

DP
type: SiteQuality
SIO_000300: 1.622205e6

FS
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 956
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9720
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66018
num of homozygotes: 0

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

East Asian
type: Population
allele count: 25
allele frequency: 2.949504483246814e-3
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

DP
type: SiteQuality
SIO_000300: 1.619473e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.294e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.129e1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-2

GenotypeQuality
all individuals: 1081
bin: 3.75e1
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: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
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variant carriers: 0

GenotypeQuality
all individuals: 3037
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65982
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

DP
type: SiteQuality
SIO_000300: 1.614505e6

QD
type: SiteQuality
SIO_000300: 1.375e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e0

GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9621
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variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.798169980644026e-5
allele num: 11366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515840533575868e-5
allele num: 65970
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

QD
type: SiteQuality
SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-2

FS
type: SiteQuality
SIO_000300: 1.974e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

MQ
type: SiteQuality
SIO_000300: 5.869e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.616757e6

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-1

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4519
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3723
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GenotypeQuality
all individuals: 15970
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 6924
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.041748482010694e-5
allele num: 66206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 1.051e0

DP
type: SiteQuality
SIO_000300: 1.992915e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

QD
type: SiteQuality
SIO_000300: 9.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 6924
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3276
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variant carriers: 0

GenotypeQuality
all individuals: 2316
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15970
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4519
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.552185602513367e-5
allele num: 66206
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 1.992915e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
SIO_000300: 1.051e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

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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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 6955
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.185e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 1.0737e1

VQSLOD
type: SiteQuality
SIO_000300: -1.058e0

DP
type: SiteQuality
SIO_000300: 1.997079e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

QD
type: SiteQuality
SIO_000300: 1.378e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 6996
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.931978107896795e-4
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.89e-2

QD
type: SiteQuality
SIO_000300: 1.674e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 2.002475e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

GenotypeQuality
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bin: 1.75e1
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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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 3305
bin: 7.25e1
variant carriers: 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: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.545e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.551e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 2.00459e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15974
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 18590
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

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

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