1-227198704-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198704
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198704
    reference: chr 1
allele count: 2
allele frequency: 2.496504893149591e-5
allele num: 80112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4813T>C
  hgvsp: ENSP00000335341.5:p.Phe1605Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2420T>C
  hgvsp: ENSP00000415388.1:p.Phe808Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5077T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5077T>C
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe808Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

1-227198711-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198711
    reference: chr 1
allele count: 1
allele frequency: 1.273625757807326e-5
allele num: 78516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4806G>C
  hgvsp: ENST00000334218.5:c.4806G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5070G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2413G>C
  hgvsp: ENST00000448940.1:c.2413G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5070G>C
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24024
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro805Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-227198711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198711
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198711
    reference: chr 1
allele count: 18
allele frequency: 2.292526364053187e-4
allele num: 78516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4806G>A
  hgvsp: ENST00000334218.5:c.4806G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2413G>A
  hgvsp: ENST00000448940.1:c.2413G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5070G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5070G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4570
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16503
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro805Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

1-227198712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198712
    reference: chr 1
allele count: 2
allele frequency: 2.553234948679978e-5
allele num: 78332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4805C>T
  hgvsp: ENSP00000335341.5:p.Pro1602Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5069C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2412C>T
  hgvsp: ENSP00000415388.1:p.Pro805Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5069C>T
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3606
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro805Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-227198714-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198714
    reference: chr 1
allele count: 1
allele frequency: 1.28846054733804e-5
allele num: 77612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2410T>G
  hgvsp: ENST00000448940.1:c.2410T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4803T>G
  hgvsp: ENST00000334218.5:c.4803T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5067T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5067T>G
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser804Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

1-227198714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198714
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198714
    reference: chr 1
allele count: 1
allele frequency: 1.28846054733804e-5
allele num: 77612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2410T>C
  hgvsp: ENST00000448940.1:c.2410T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5067T>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4803T>C
  hgvsp: ENST00000334218.5:c.4803T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12939
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser804Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

1-227198721-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198721
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198721
    reference: chr 1
allele count: 5
allele frequency: 6.567713122290818e-5
allele num: 76130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4796T>A
  hgvsp: ENSP00000335341.5:p.Ile1599Asn
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2403T>A
  hgvsp: ENSP00000415388.1:p.Ile802Asn
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5060T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5060T>A
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14659
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile802Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

1-227198728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198728
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198728
    reference: chr 1
allele count: 6
allele frequency: 8.1127126206766e-5
allele num: 73958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4789G>A
  hgvsp: ENSP00000335341.5:p.Gly1597Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2396G>A
  hgvsp: ENSP00000415388.1:p.Gly800Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5053G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5053G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18482
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly800Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

1-227198729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198729
    reference: chr 1
allele count: 45
allele frequency: 6.122282386873826e-4
allele num: 73502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4788C>T
  hgvsp: ENST00000334218.5:c.4788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5052C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2395C>T
  hgvsp: ENST00000448940.1:c.2395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13448
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18609
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser799Ser
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: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ

1-227198733-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198733
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198733
    reference: chr 1
allele count: 1
allele frequency: 1.377220768489189e-5
allele num: 72610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4784A>C
  hgvsp: ENSP00000335341.5:p.His1595Pro
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2391A>C
  hgvsp: ENSP00000415388.1:p.His798Pro
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5048A>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5048A>C
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His798Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

1-227198737-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198737
    reference: chr 1
allele count: 1312
allele frequency: 1.855675935617097e-2
allele num: 70702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2387C>G
  hgvsp: ENSP00000415388.1:p.His797Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4780C>G
  hgvsp: ENSP00000335341.5:p.His1594Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5044C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5044C>G
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 19409
  bin: 7.5e0
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 1.25e1
  variant carriers: 344
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 2.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 4.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.75e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 2.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 3.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 1.75e1
  variant carriers: 341
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 5.25e1
  variant carriers: 12
hgvs: p.His797Asp
num of homozygotes: 16
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-227198743-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198743
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198743
    reference: chr 1
allele count: 2
allele frequency: 2.931691586045148e-5
allele num: 68220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4774C>G
  hgvsp: ENSP00000335341.5:p.Pro1592Ala
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2381C>G
  hgvsp: ENSP00000415388.1:p.Pro795Ala
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5038C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5038C>G
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9346
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16399
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro795Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

1-227198748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198748
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 66044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4769C>T
  hgvsp: ENSP00000335341.5:p.Pro1590Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2376C>T
  hgvsp: ENSP00000415388.1:p.Pro793Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5033C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5033C>T
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16971
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20476
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1590Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-227198748-G-GAACA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198748
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198752
    reference: chr 1
allele count: 1
allele frequency: 1.514142087093453e-5
allele num: 66044
alternate allele: GAACA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5032_1444+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5032_4791+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5032_4752+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2375_2376insTGTT
  hgvsp: ENSP00000415388.1:p.Pro793LeufsTer18
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5032_4857+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5032_4692+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5032_2737+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4768_4769insTGTT
  hgvsp: ENSP00000335341.5:p.Pro1590LeufsTer18
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5032_4668+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5032_4509+5033insTGTT
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16971
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Pro1590LeufsTer18
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/1-227198750-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198750
    reference: chr 1
allele count: 1
allele frequency: 1.530175052025952e-5
allele num: 65352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4767T>G
  hgvsp: ENSP00000335341.5:p.Tyr1589Ter
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2374T>G
  hgvsp: ENSP00000415388.1:p.Tyr792Ter
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5031T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5031T>G
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17105
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31747
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr792Ter
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

1-227198756-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198756
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198756
    reference: chr 1
allele count: 1
allele frequency: 1.623587478893363e-5
allele num: 61592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4761C>A
  hgvsp: ENSP00000335341.5:p.Phe1587Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2368C>A
  hgvsp: ENSP00000415388.1:p.Phe790Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5025C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5025C>A
  variant of: http://identifiers.org/hgnc/1737
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17463
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe790Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

1-227198775-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198775
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198775
    reference: chr 1
allele count: 9631
allele frequency: 2.112710042556925e-1
allele num: 45586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-11G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5006G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-11G>C
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 2.5e0
  variant carriers: 371
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 7.5e0
  variant carriers: 4624
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.75e1
  variant carriers: 416
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 14879
  bin: 1.25e1
  variant carriers: 4520
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.25e1
  variant carriers: 814
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 1941
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 3.75e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 177
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 3.25e1
  variant carriers: 214
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 5.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 234
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 176
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 1.25e1
  variant carriers: 177
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.75e1
  variant carriers: 186
num of homozygotes: 930
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-227198780-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198780
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198781
    reference: chr 1
allele count: 1
allele frequency: 2.907822041291073e-5
allele num: 34390
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-17dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-17dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+5000dupT
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+5000dupT
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 12372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/1-227198790-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198790
    reference: chr 1
allele count: 2
allele frequency: 7.84375245117264e-5
allele num: 25498
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-26T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-26T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+4991T>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+4991T>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8918
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

1-227198797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198797
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198797
    reference: chr 1
allele count: 1
allele frequency: 4.671587405400355e-5
allele num: 21406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-33T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-33T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+4984T>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+4984T>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5334
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  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: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-227198802-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198802
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198802
    reference: chr 1
allele count: 1
allele frequency: 5.307855626326964e-5
allele num: 18840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-38C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+4979C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-38C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+4979C>T
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10894
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-227198803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198803
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 18486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-39C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+4978C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-39C>T
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19838
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3632
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

1-227198805-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198805
    reference: chr 1
allele count: 2
allele frequency: 1.224140041620761e-4
allele num: 16338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-41C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-41C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+4976C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+4976C>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

1-227198813-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227198813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227198813
    reference: chr 1
allele count: 1
allele frequency: 6.68002672010688e-5
allele num: 14970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4753-49A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2360-49A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+4968A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+4968A>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

1-227203731-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203731
    reference: chr 1
allele count: 2
allele frequency: 1.665306666222585e-5
allele num: 120098
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+50A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+50A>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-227203734-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203734
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203733
    reference: chr 1
allele count: 3
allele frequency: 2.496920464760129e-5
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+46delG
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+46delG
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7263
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: TC
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

1-227203735-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203735
    reference: chr 1
allele count: 2
allele frequency: 1.664004259850905e-5
allele num: 120192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+46G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+46G>C
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30454
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

1-227203735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203735
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203735
    reference: chr 1
allele count: 1
allele frequency: 8.320021299254527e-6
allele num: 120192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+46G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+46G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

1-227203737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203737
    reference: chr 1
allele count: 3
allele frequency: 2.4906600249066e-5
allele num: 120450
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+44G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+44G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-227203738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203738
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203738
    reference: chr 1
allele count: 4
allele frequency: 3.321321221581945e-5
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+43G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+43G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ

1-227203739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203739
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203739
    reference: chr 1
allele count: 2
allele frequency: 1.660054117764239e-5
allele num: 120478
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+42G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+42G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-227203740-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203740
    reference: chr 1
allele count: 3
allele frequency: 2.489337338400518e-5
allele num: 120514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+41G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+41G>T
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-227203740-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203740
    reference: chr 1
allele count: 2
allele frequency: 1.659558225600345e-5
allele num: 120514
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+41G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+41G>C
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7700
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-227203740-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203740
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203740
    reference: chr 1
allele count: 29
allele frequency: 2.406359427120501e-4
allele num: 120514
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+41G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+41G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30461
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

1-227203745-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203745
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203745
    reference: chr 1
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+36G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+36G>C
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-227203746-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203746
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203746
    reference: chr 1
allele count: 7
allele frequency: 5.804504295333179e-5
allele num: 120596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+35G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+35G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-227203747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203747
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203747
    reference: chr 1
allele count: 7
allele frequency: 5.803830528148578e-5
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+34C>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+34C>T
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3769
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

1-227203750-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203750
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203750
    reference: chr 1
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+31G>C
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+31G>C
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4733
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-227203751-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203751
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203751
    reference: chr 1
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+30A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+30A>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-227203758-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203758
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203758
    reference: chr 1
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+23G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+23G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4864
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-227203760-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203760
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203760
    reference: chr 1
allele count: 9
allele frequency: 7.449961094647617e-5
allele num: 120806
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+21G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+21G>T
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

1-227203760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203760
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203760
    reference: chr 1
allele count: 1
allele frequency: 8.277734549608463e-6
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+21G>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+21G>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7100
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-227203767-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203767
    reference: chr 1
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752+14A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668+14A>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30488
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-227203781-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203781
    reference: chr 1
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4791G>T
  hgvsp: ENSP00000355727.3:p.Met1597Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4692G>T
  hgvsp: ENSP00000443275.1:p.Met1564Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1444G>T
  hgvsp: ENSP00000407120.1:p.Met482Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2737G>T
  hgvsp: ENSP00000401051.1:p.Met913Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4509G>T
  hgvsp: ENSP00000355729.3:p.Met1503Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4857G>T
  hgvsp: ENSP00000355728.2:p.Met1619Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2359G>T
  hgvsp: ENSP00000415388.1:p.Met787Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4668G>T
  hgvsp: ENSP00000355726.2:p.Met1556Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4752G>T
  hgvsp: ENSP00000335341.5:p.Met1584Ile
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4752G>T
  hgvsp: ENSP00000355731.3:p.Met1584Ile
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1584Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD

1-227203783-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203783
    reference: chr 1
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4690A>T
  hgvsp: ENSP00000443275.1:p.Met1564Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4789A>T
  hgvsp: ENSP00000355727.3:p.Met1597Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2735A>T
  hgvsp: ENSP00000401051.1:p.Met913Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1442A>T
  hgvsp: ENSP00000407120.1:p.Met482Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4855A>T
  hgvsp: ENSP00000355728.2:p.Met1619Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4750A>T
  hgvsp: ENSP00000335341.5:p.Met1584Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2357A>T
  hgvsp: ENSP00000415388.1:p.Met787Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4507A>T
  hgvsp: ENSP00000355729.3:p.Met1503Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4750A>T
  hgvsp: ENSP00000355731.3:p.Met1584Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4666A>T
  hgvsp: ENSP00000355726.2:p.Met1556Leu
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3471
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1584Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

1-227203785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203785
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203785
    reference: chr 1
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4688C>T
  hgvsp: ENSP00000443275.1:p.Pro1563Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4748C>T
  hgvsp: ENSP00000355731.3:p.Pro1583Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2355C>T
  hgvsp: ENSP00000415388.1:p.Pro786Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4505C>T
  hgvsp: ENSP00000355729.3:p.Pro1502Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4787C>T
  hgvsp: ENSP00000355727.3:p.Pro1596Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4853C>T
  hgvsp: ENSP00000355728.2:p.Pro1618Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4664C>T
  hgvsp: ENSP00000355726.2:p.Pro1555Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4748C>T
  hgvsp: ENSP00000335341.5:p.Pro1583Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2733C>T
  hgvsp: ENSP00000401051.1:p.Pro912Leu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1440C>T
  hgvsp: ENSP00000407120.1:p.Pro481Leu
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro1583Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-227203787-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203787
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203787
    reference: chr 1
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4785G>A
  hgvsp: ENST00000366765.3:c.4785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2731G>A
  hgvsp: ENST00000442054.1:c.2731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4746G>A
  hgvsp: ENST00000366769.3:c.4746G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2353G>A
  hgvsp: ENST00000448940.1:c.2353G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4503G>A
  hgvsp: ENST00000366767.3:c.4503G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4662G>A
  hgvsp: ENST00000366764.2:c.4662G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4686G>A
  hgvsp: ENST00000535525.1:c.4686G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1438G>A
  hgvsp: ENST00000429440.1:c.1438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4851G>A
  hgvsp: ENST00000366766.2:c.4851G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4746G>A
  hgvsp: ENST00000334218.5:c.4746G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8565
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1582Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-227203790-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203790
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203790
    reference: chr 1
allele count: 1
allele frequency: 8.247694769311978e-6
allele num: 121246
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4500T>G
  hgvsp: ENSP00000355729.3:p.Asp1500Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4782T>G
  hgvsp: ENSP00000355727.3:p.Asp1594Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4848T>G
  hgvsp: ENSP00000355728.2:p.Asp1616Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4683T>G
  hgvsp: ENSP00000443275.1:p.Asp1561Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1435T>G
  hgvsp: ENSP00000407120.1:p.Asp479Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2728T>G
  hgvsp: ENSP00000401051.1:p.Asp910Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2350T>G
  hgvsp: ENSP00000415388.1:p.Asp784Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4743T>G
  hgvsp: ENSP00000335341.5:p.Asp1581Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4659T>G
  hgvsp: ENSP00000355726.2:p.Asp1553Glu
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4743T>G
  hgvsp: ENSP00000355731.3:p.Asp1581Glu
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4930
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8583
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp1581Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-227203792-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203792
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203792
    reference: chr 1
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4741G>T
  hgvsp: ENSP00000355731.3:p.Asp1581Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4657G>T
  hgvsp: ENSP00000355726.2:p.Asp1553Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1433G>T
  hgvsp: ENSP00000407120.1:p.Asp479Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2348G>T
  hgvsp: ENSP00000415388.1:p.Asp784Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4741G>T
  hgvsp: ENSP00000335341.5:p.Asp1581Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4681G>T
  hgvsp: ENSP00000443275.1:p.Asp1561Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2726G>T
  hgvsp: ENSP00000401051.1:p.Asp910Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4846G>T
  hgvsp: ENSP00000355728.2:p.Asp1616Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4498G>T
  hgvsp: ENSP00000355729.3:p.Asp1500Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4780G>T
  hgvsp: ENSP00000355727.3:p.Asp1594Tyr
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp1581Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-227203793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203793
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203793
    reference: chr 1
allele count: 166
allele frequency: 1.369027001171095e-3
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1432A>G
  hgvsp: ENST00000429440.1:c.1432A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4779A>G
  hgvsp: ENST00000366765.3:c.4779A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4740A>G
  hgvsp: ENST00000334218.5:c.4740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4680A>G
  hgvsp: ENST00000535525.1:c.4680A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2347A>G
  hgvsp: ENST00000448940.1:c.2347A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2725A>G
  hgvsp: ENST00000442054.1:c.2725A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4740A>G
  hgvsp: ENST00000366769.3:c.4740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4845A>G
  hgvsp: ENST00000366766.2:c.4845A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4497A>G
  hgvsp: ENST00000366767.3:c.4497A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4656A>G
  hgvsp: ENST00000366764.2:c.4656A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4925
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7292
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6674
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 9.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1580Lys
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-227203805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203805
    reference: chr 1
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4644A>G
  hgvsp: ENSP00000355726.2:p.Ile1548Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2713A>G
  hgvsp: ENSP00000401051.1:p.Ile905Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4485A>G
  hgvsp: ENSP00000355729.3:p.Ile1495Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4767A>G
  hgvsp: ENSP00000355727.3:p.Ile1589Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4668A>G
  hgvsp: ENSP00000443275.1:p.Ile1556Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4728A>G
  hgvsp: ENSP00000335341.5:p.Ile1576Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1420A>G
  hgvsp: ENSP00000407120.1:p.Ile474Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4728A>G
  hgvsp: ENSP00000355731.3:p.Ile1576Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4833A>G
  hgvsp: ENSP00000355728.2:p.Ile1611Met
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2335A>G
  hgvsp: ENSP00000415388.1:p.Ile779Met
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3436
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1576Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

1-227203812-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203812
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203812
    reference: chr 1
allele count: 3
allele frequency: 2.473166147301776e-5
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4637A>G
  hgvsp: ENSP00000355726.2:p.Asp1546Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2328A>G
  hgvsp: ENSP00000415388.1:p.Asp777Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4661A>G
  hgvsp: ENSP00000443275.1:p.Asp1554Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4721A>G
  hgvsp: ENSP00000355731.3:p.Asp1574Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4760A>G
  hgvsp: ENSP00000355727.3:p.Asp1587Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4721A>G
  hgvsp: ENSP00000335341.5:p.Asp1574Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1413A>G
  hgvsp: ENSP00000407120.1:p.Asp472Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4478A>G
  hgvsp: ENSP00000355729.3:p.Asp1493Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2706A>G
  hgvsp: ENSP00000401051.1:p.Asp903Gly
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4826A>G
  hgvsp: ENSP00000355728.2:p.Asp1609Gly
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp1574Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-227203817-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203817
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4632T>C
  hgvsp: ENST00000366764.2:c.4632T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4656T>C
  hgvsp: ENST00000535525.1:c.4656T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4716T>C
  hgvsp: ENST00000334218.5:c.4716T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4755T>C
  hgvsp: ENST00000366765.3:c.4755T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2701T>C
  hgvsp: ENST00000442054.1:c.2701T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2323T>C
  hgvsp: ENST00000448940.1:c.2323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4716T>C
  hgvsp: ENST00000366769.3:c.4716T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1408T>C
  hgvsp: ENST00000429440.1:c.1408T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4473T>C
  hgvsp: ENST00000366767.3:c.4473T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4821T>C
  hgvsp: ENST00000366766.2:c.4821T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1572Pro
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

1-227203819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203819
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203819
    reference: chr 1
allele count: 5
allele frequency: 4.12173970389422e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4630C>T
  hgvsp: ENSP00000355726.2:p.Pro1544Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4714C>T
  hgvsp: ENSP00000335341.5:p.Pro1572Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4714C>T
  hgvsp: ENSP00000355731.3:p.Pro1572Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4753C>T
  hgvsp: ENSP00000355727.3:p.Pro1585Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4471C>T
  hgvsp: ENSP00000355729.3:p.Pro1491Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2699C>T
  hgvsp: ENSP00000401051.1:p.Pro901Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4819C>T
  hgvsp: ENSP00000355728.2:p.Pro1607Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1406C>T
  hgvsp: ENSP00000407120.1:p.Pro470Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4654C>T
  hgvsp: ENSP00000443275.1:p.Pro1552Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2321C>T
  hgvsp: ENSP00000415388.1:p.Pro775Ser
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6691
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro1572Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ

1-227203825-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203825
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203825
    reference: chr 1
allele count: 9
allele frequency: 7.41888683724611e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2693A>G
  hgvsp: ENSP00000401051.1:p.Met899Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4708A>G
  hgvsp: ENSP00000335341.5:p.Met1570Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2315A>G
  hgvsp: ENSP00000415388.1:p.Met773Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4624A>G
  hgvsp: ENSP00000355726.2:p.Met1542Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4747A>G
  hgvsp: ENSP00000355727.3:p.Met1583Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4708A>G
  hgvsp: ENSP00000355731.3:p.Met1570Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1400A>G
  hgvsp: ENSP00000407120.1:p.Met468Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4648A>G
  hgvsp: ENSP00000443275.1:p.Met1550Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4813A>G
  hgvsp: ENSP00000355728.2:p.Met1605Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4465A>G
  hgvsp: ENSP00000355729.3:p.Met1489Val
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met1570Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-227203831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203831
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203831
    reference: chr 1
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4459G>A
  hgvsp: ENSP00000355729.3:p.Ala1487Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2309G>A
  hgvsp: ENSP00000415388.1:p.Ala771Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4702G>A
  hgvsp: ENSP00000355731.3:p.Ala1568Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4702G>A
  hgvsp: ENSP00000335341.5:p.Ala1568Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2687G>A
  hgvsp: ENSP00000401051.1:p.Ala897Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4741G>A
  hgvsp: ENSP00000355727.3:p.Ala1581Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4618G>A
  hgvsp: ENSP00000355726.2:p.Ala1540Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4642G>A
  hgvsp: ENSP00000443275.1:p.Ala1548Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4807G>A
  hgvsp: ENSP00000355728.2:p.Ala1603Thr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1394G>A
  hgvsp: ENSP00000407120.1:p.Ala466Thr
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1568Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-227203834-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203834
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203834
    reference: chr 1
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2684A>G
  hgvsp: ENSP00000401051.1:p.Ile896Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4738A>G
  hgvsp: ENSP00000355727.3:p.Ile1580Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1391A>G
  hgvsp: ENSP00000407120.1:p.Ile465Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4639A>G
  hgvsp: ENSP00000443275.1:p.Ile1547Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4804A>G
  hgvsp: ENSP00000355728.2:p.Ile1602Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2306A>G
  hgvsp: ENSP00000415388.1:p.Ile770Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4699A>G
  hgvsp: ENSP00000355731.3:p.Ile1567Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4699A>G
  hgvsp: ENSP00000335341.5:p.Ile1567Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4456A>G
  hgvsp: ENSP00000355729.3:p.Ile1486Val
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4615A>G
  hgvsp: ENSP00000355726.2:p.Ile1539Val
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile1567Val
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

1-227203838-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203838
    reference: chr 1
allele count: 8
allele frequency: 6.59576222277187e-5
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4695T>C
  hgvsp: ENST00000334218.5:c.4695T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2302T>C
  hgvsp: ENST00000448940.1:c.2302T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2680T>C
  hgvsp: ENST00000442054.1:c.2680T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4800T>C
  hgvsp: ENST00000366766.2:c.4800T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4635T>C
  hgvsp: ENST00000535525.1:c.4635T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4734T>C
  hgvsp: ENST00000366765.3:c.4734T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4452T>C
  hgvsp: ENST00000366767.3:c.4452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4695T>C
  hgvsp: ENST00000366769.3:c.4695T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1387T>C
  hgvsp: ENST00000429440.1:c.1387T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4611T>C
  hgvsp: ENST00000366764.2:c.4611T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4143
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1565Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

1-227203839-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203839
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203839
    reference: chr 1
allele count: 3
allele frequency: 2.473573984597879e-5
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4694A>G
  hgvsp: ENSP00000335341.5:p.Asn1565Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4451A>G
  hgvsp: ENSP00000355729.3:p.Asn1484Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4634A>G
  hgvsp: ENSP00000443275.1:p.Asn1545Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4799A>G
  hgvsp: ENSP00000355728.2:p.Asn1600Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1386A>G
  hgvsp: ENSP00000407120.1:p.Asn463Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4694A>G
  hgvsp: ENSP00000355731.3:p.Asn1565Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2679A>G
  hgvsp: ENSP00000401051.1:p.Asn894Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4733A>G
  hgvsp: ENSP00000355727.3:p.Asn1578Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4610A>G
  hgvsp: ENSP00000355726.2:p.Asn1537Ser
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2301A>G
  hgvsp: ENSP00000415388.1:p.Asn768Ser
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn1565Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

1-227203846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203846
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203846
    reference: chr 1
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4603A>G
  hgvsp: ENSP00000355726.2:p.Asn1535Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4687A>G
  hgvsp: ENSP00000335341.5:p.Asn1563Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4726A>G
  hgvsp: ENSP00000355727.3:p.Asn1576Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2672A>G
  hgvsp: ENSP00000401051.1:p.Asn892Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4627A>G
  hgvsp: ENSP00000443275.1:p.Asn1543Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4687A>G
  hgvsp: ENSP00000355731.3:p.Asn1563Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4792A>G
  hgvsp: ENSP00000355728.2:p.Asn1598Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1379A>G
  hgvsp: ENSP00000407120.1:p.Asn461Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4444A>G
  hgvsp: ENSP00000355729.3:p.Asn1482Asp
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2294A>G
  hgvsp: ENSP00000415388.1:p.Asn766Asp
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1563Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-227203855-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203855
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203855
    reference: chr 1
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2285A>T
  hgvsp: ENSP00000415388.1:p.Asn763Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4594A>T
  hgvsp: ENSP00000355726.2:p.Asn1532Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4717A>T
  hgvsp: ENSP00000355727.3:p.Asn1573Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4435A>T
  hgvsp: ENSP00000355729.3:p.Asn1479Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4678A>T
  hgvsp: ENSP00000335341.5:p.Asn1560Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4618A>T
  hgvsp: ENSP00000443275.1:p.Asn1540Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4678A>T
  hgvsp: ENSP00000355731.3:p.Asn1560Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2663A>T
  hgvsp: ENSP00000401051.1:p.Asn889Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1370A>T
  hgvsp: ENSP00000407120.1:p.Asn458Tyr
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4783A>T
  hgvsp: ENSP00000355728.2:p.Asn1595Tyr
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8543
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1560Tyr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

1-227203859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203859
    reference: chr 1
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4713T>C
  hgvsp: ENST00000366765.3:c.4713T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4674T>C
  hgvsp: ENST00000334218.5:c.4674T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1366T>C
  hgvsp: ENST00000429440.1:c.1366T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2659T>C
  hgvsp: ENST00000442054.1:c.2659T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4614T>C
  hgvsp: ENST00000535525.1:c.4614T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4674T>C
  hgvsp: ENST00000366769.3:c.4674T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2281T>C
  hgvsp: ENST00000448940.1:c.2281T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4590T>C
  hgvsp: ENST00000366764.2:c.4590T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4431T>C
  hgvsp: ENST00000366767.3:c.4431T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4779T>C
  hgvsp: ENST00000366766.2:c.4779T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile1558Ile
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: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-227203875-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203875
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203875
    reference: chr 1
allele count: 4
allele frequency: 3.299295600389317e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4658T>A
  hgvsp: ENSP00000355731.3:p.Met1553Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2643T>A
  hgvsp: ENSP00000401051.1:p.Met882Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4658T>A
  hgvsp: ENSP00000335341.5:p.Met1553Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1350T>A
  hgvsp: ENSP00000407120.1:p.Met451Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4763T>A
  hgvsp: ENSP00000355728.2:p.Met1588Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4415T>A
  hgvsp: ENSP00000355729.3:p.Met1472Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4697T>A
  hgvsp: ENSP00000355727.3:p.Met1566Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4598T>A
  hgvsp: ENSP00000443275.1:p.Met1533Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4574T>A
  hgvsp: ENSP00000355726.2:p.Met1525Lys
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2265T>A
  hgvsp: ENSP00000415388.1:p.Met756Lys
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met1553Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-227203887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203887
    reference: chr 1
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4646G>A
  hgvsp: ENSP00000335341.5:p.Arg1549Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4751G>A
  hgvsp: ENSP00000355728.2:p.Arg1584Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2253G>A
  hgvsp: ENSP00000415388.1:p.Arg752Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4586G>A
  hgvsp: ENSP00000443275.1:p.Arg1529Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4562G>A
  hgvsp: ENSP00000355726.2:p.Arg1521Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1338G>A
  hgvsp: ENSP00000407120.1:p.Arg447Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4685G>A
  hgvsp: ENSP00000355727.3:p.Arg1562Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4403G>A
  hgvsp: ENSP00000355729.3:p.Arg1468Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4646G>A
  hgvsp: ENSP00000355731.3:p.Arg1549Gln
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2631G>A
  hgvsp: ENSP00000401051.1:p.Arg878Gln
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3815
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1549Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-227203911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203911
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4635-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4575-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4740-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1327-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2620-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4392-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2242-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4551-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4635-13C>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4674-13C>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

1-227203911-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203911
    reference: chr 1
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4551-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4392-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4740-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4674-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1327-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2242-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4575-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4635-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2620-13C>A
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4635-13C>A
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-227203912-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203912
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203912
    reference: chr 1
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1327-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4575-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4674-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4635-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4551-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4635-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2620-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2242-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4392-14G>T
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4740-14G>T
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

1-227203918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203918
    reference: chr 1
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4635-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4674-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4551-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1327-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4635-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2620-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4392-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4575-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4740-20A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2242-20A>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

1-227203920-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 227203920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 227203920
    reference: chr 1
allele count: 1
allele frequency: 8.267469162340024e-6
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000401051
  ensembl transcript: ENST00000442054
  gene symbol: CDC42BPA
  hgvsc: ENST00000442054.1:c.2620-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355729
  ensembl transcript: ENST00000366767
  gene symbol: CDC42BPA
  hgvsc: ENST00000366767.3:c.4392-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000415388
  ensembl transcript: ENST00000448940
  gene symbol: CDC42BPA
  hgvsc: ENST00000448940.1:c.2242-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000443275
  ensembl transcript: ENST00000535525
  gene symbol: CDC42BPA
  hgvsc: ENST00000535525.1:c.4575-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355726
  ensembl transcript: ENST00000366764
  gene symbol: CDC42BPA
  hgvsc: ENST00000366764.2:c.4551-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355731
  ensembl transcript: ENST00000366769
  gene symbol: CDC42BPA
  hgvsc: ENST00000366769.3:c.4635-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355727
  ensembl transcript: ENST00000366765
  gene symbol: CDC42BPA
  hgvsc: ENST00000366765.3:c.4674-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000407120
  ensembl transcript: ENST00000429440
  gene symbol: CDC42BPA
  hgvsc: ENST00000429440.1:c.1327-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000355728
  ensembl transcript: ENST00000366766
  gene symbol: CDC42BPA
  hgvsc: ENST00000366766.2:c.4740-22A>G
  variant of: http://identifiers.org/hgnc/1737
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000143776
  ensembl protein: ENSP00000335341
  ensembl transcript: ENST00000334218
  gene symbol: CDC42BPA
  hgvsc: ENST00000334218.5:c.4635-22A>G
  variant of: http://identifiers.org/hgnc/1737
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 1165
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.252759630547421e-5
allele num: 44390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5100
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.677289500167729e-4
allele num: 5962
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 2.083e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-1

DP
type: SiteQuality
SIO_000300: 9.69027e5

VQSLOD
type: SiteQuality
SIO_000300: -1.937e0

GenotypeQuality
all individuals: 715
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18274
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.722949689869056e-4
allele num: 5804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

FS
type: SiteQuality
SIO_000300: 6.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 9.5994e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

GenotypeQuality
all individuals: 1418
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 715
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24024
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1491
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 178
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2461
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18274
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 16
allele frequency: 2.756719503790489e-3
allele num: 5804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.738525730180807e-4
allele num: 5752
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.607717041800643e-3
allele num: 622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5006
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.26e0

DP
type: SiteQuality
SIO_000300: 9.5994e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

GenotypeQuality
all individuals: 2297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 413
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2429
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 270
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24383
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18607
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.302025782688766e-5
allele num: 43440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.734906315058987e-4
allele num: 5764
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.817e0

DP
type: SiteQuality
SIO_000300: 9.57467e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

GenotypeQuality
all individuals: 526
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 6.25e1
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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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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.32709671413944e-5
allele num: 42972
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

DP
type: SiteQuality
SIO_000300: 9.41197e5

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 9.02e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.753155680224404e-4
allele num: 5704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
SIO_000300: 9.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.54e-1

DP
type: SiteQuality
SIO_000300: 9.41197e5

GenotypeQuality
all individuals: 262
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2411
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
all individuals: 656
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variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.185564565846256e-4
allele num: 42174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11200
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 6.907e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.516e0

VQSLOD
type: SiteQuality
SIO_000300: -1.026e-1

DP
type: SiteQuality
SIO_000300: 9.24009e5

GenotypeQuality
all individuals: 546
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
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variant carriers: 0

GenotypeQuality
all individuals: 15618
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GenotypeQuality
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GenotypeQuality
all individuals: 1206
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GenotypeQuality
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GenotypeQuality
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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: 1404
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 647
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GenotypeQuality
all individuals: 248
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GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.61794500723589e-4
allele num: 11056
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.849796522382538e-4
allele num: 5406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.439381372883837e-5
allele num: 40994
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 2.823e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 1.9954e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.05325e5

GenotypeQuality
all individuals: 415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2370
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 247
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GenotypeQuality
all individuals: 244
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 2216
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15630
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GenotypeQuality
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bin: 9.75e1
variant carriers: 47

African
type: Population
allele count: 41
allele frequency: 7.63216679076694e-3
allele num: 5372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.828975820719482e-5
allele num: 40696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4756
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

DP
type: SiteQuality
SIO_000300: 9.01881e5

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 1.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 172
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 1.25e1
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GenotypeQuality
all individuals: 1399
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GenotypeQuality
all individuals: 214
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 719
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1141
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.920860545524395e-4
allele num: 5206
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4704
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.399e0

QD
type: SiteQuality
SIO_000300: 2.985e1

VQSLOD
type: SiteQuality
SIO_000300: -2.789e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 8.85229e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
all individuals: 350
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 26

GenotypeQuality
all individuals: 2874
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 9

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 19

GenotypeQuality
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bin: 5.75e1
variant carriers: 12

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2606
bin: 9.75e1
variant carriers: 1289

GenotypeQuality
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bin: 1.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1027
bin: 6.75e1
variant carriers: 12

GenotypeQuality
all individuals: 231
bin: 7.25e1
variant carriers: 12

European (Non-Finnish)
type: Population
allele count: 687
allele frequency: 1.753177155106415e-2
allele num: 39186
num of homozygotes: 4

East Asian
type: Population
allele count: 1
allele frequency: 2.009646302250804e-4
allele num: 4976
num of homozygotes: 0

African
type: Population
allele count: 25
allele frequency: 4.915454187966968e-3
allele num: 5086
num of homozygotes: 0

Latino
type: Population
allele count: 48
allele frequency: 8.755928493250638e-3
allele num: 5482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 88
allele frequency: 1.917211328976035e-2
allele num: 4590
num of homozygotes: 0

South Asian
type: Population
allele count: 452
allele frequency: 4.189063948100093e-2
allele num: 10790
num of homozygotes: 12

Other
type: Population
allele count: 11
allele frequency: 1.858108108108108e-2
allele num: 592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 8.66598e5

VQSLOD
type: SiteQuality
SIO_000300: 4.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

GenotypeQuality
all individuals: 31105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 4.25e1
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GenotypeQuality
all individuals: 11759
bin: 6.25e1
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GenotypeQuality
all individuals: 157
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 210
bin: 7.75e1
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GenotypeQuality
all individuals: 296
bin: 5.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 216
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4734
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4888
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.926782273603083e-4
allele num: 10380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.30596e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

QD
type: SiteQuality
SIO_000300: 7.76e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.5e0
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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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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36744
num of homozygotes: 0

South Asian
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: 4502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.22e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 8.04266e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 3.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
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bin: 6.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.721532767254518e-5
allele num: 36744
num of homozygotes: 0

South Asian
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: 4502
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.04266e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

MQ
type: SiteQuality
SIO_000300: 5.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 3.28e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 201
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GenotypeQuality
all individuals: 1084
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.754972725770015e-5
allele num: 36298
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

QD
type: SiteQuality
SIO_000300: 7.03e0

VQSLOD
type: SiteQuality
SIO_000300: -2.949e0

DP
type: SiteQuality
SIO_000300: 7.9355e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.98e-1

MQ
type: SiteQuality
SIO_000300: 4.547e1

MQRankSum
type: SiteQuality
SIO_000300: -1.271e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.179e0

GenotypeQuality
all individuals: 2672
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1322
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2421
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 113
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4400
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.03950103950104e-4
allele num: 9620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4100
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.938e0

MQRankSum
type: SiteQuality
SIO_000300: -1.036e0

QD
type: SiteQuality
SIO_000300: 7.01e0

DP
type: SiteQuality
SIO_000300: 7.5236e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

GenotypeQuality
all individuals: 258
bin: 8.25e1
variant carriers: 175

GenotypeQuality
all individuals: 609
bin: 6.75e1
variant carriers: 305

GenotypeQuality
all individuals: 212
bin: 4.75e1
variant carriers: 155

GenotypeQuality
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GenotypeQuality
all individuals: 3392
bin: 2.5e0
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GenotypeQuality
all individuals: 1570
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variant carriers: 376

GenotypeQuality
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bin: 2.75e1
variant carriers: 348

GenotypeQuality
all individuals: 20470
bin: 2.25e1
variant carriers: 466

GenotypeQuality
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bin: 3.25e1
variant carriers: 393

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 93

GenotypeQuality
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GenotypeQuality
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variant carriers: 165

GenotypeQuality
all individuals: 9711
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variant carriers: 9037

GenotypeQuality
all individuals: 2363
bin: 6.25e1
variant carriers: 313

Latino
type: Population
allele count: 353
allele frequency: 1.294937637564197e-1
allele num: 2726
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 7319
allele frequency: 2.863234488694155e-1
allele num: 25562
num of homozygotes: 776

Other
type: Population
allele count: 97
allele frequency: 2.425e-1
allele num: 400
num of homozygotes: 8

European (Finnish)
type: Population
allele count: 871
allele frequency: 2.527568195008706e-1
allele num: 3446
num of homozygotes: 96

East Asian
type: Population
allele count: 2
allele frequency: 7.369196757553427e-4
allele num: 2714
num of homozygotes: 0

African
type: Population
allele count: 208
allele frequency: 6.40788662969809e-2
allele num: 3246
num of homozygotes: 5

South Asian
type: Population
allele count: 781
allele frequency: 1.042445274959957e-1
allele num: 7492
num of homozygotes: 35

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

QD
type: SiteQuality
SIO_000300: 1.755e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.59e-2

DP
type: SiteQuality
SIO_000300: 6.33001e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-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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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.600358422939068e-5
allele num: 17856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.613e0

QD
type: SiteQuality
SIO_000300: 3.072e1

MQRankSum
type: SiteQuality
SIO_000300: -5.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.97e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.12149e5

MQ
type: SiteQuality
SIO_000300: 5.918e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 109
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.782101167315176e-5
allele num: 12850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.604051565377532e-4
allele num: 2172
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 4.4236e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

FS
type: SiteQuality
SIO_000300: 2.663e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.818e1

GenotypeQuality
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bin: 6.75e1
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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GenotypeQuality
all individuals: 512
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 222
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1202
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2156
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 9.274717121127805e-5
allele num: 10782
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -2.18e0

ReadPosRankSum
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MQRankSum
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SIO_000300: -1.468e0

VQSLOD
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.38e-2

ClippingRankSum
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SIO_000300: 0.0e0

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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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

African
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allele frequency: 5.747126436781609e-4
allele num: 1740
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

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

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

DP
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SIO_000300: 3.95312e5

ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2028
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9192
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele frequency: 6.101281269066504e-4
allele num: 3278
num of homozygotes: 1

African
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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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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8070
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 3.82313e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.347e0

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

African
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
allele num: 1898
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.359064963305246e-4
allele num: 7358
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 464
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.622e0

VQSLOD
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e-1

FS
type: SiteQuality
SIO_000300: 4.218e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.07e-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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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16048
num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

BaseQRankSum
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QD
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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East Asian
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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: 3
allele frequency: 4.510057428064584e-5
allele num: 66518
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66514
num of homozygotes: 0

Latino
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South Asian
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Other
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East Asian
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MQRankSum
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FS
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ClippingRankSum
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.218905472636816e-5
allele num: 16080
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.070679e6

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

FS
type: SiteQuality
SIO_000300: 4.612e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
all individuals: 30463
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.847973389183196e-4
allele num: 16234
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.483e1

DP
type: SiteQuality
SIO_000300: 3.073147e6

MQRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

FS
type: SiteQuality
SIO_000300: 6.019e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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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

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.848201084277969e-4
allele num: 16232
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 3.074194e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

FS
type: SiteQuality
SIO_000300: 7.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30458
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3948
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.619e1

DP
type: SiteQuality
SIO_000300: 3.075266e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.056e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.123e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

GenotypeQuality
all individuals: 2063
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 373
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variant carriers: 0

GenotypeQuality
all individuals: 4710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2191
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7700
bin: 6.25e1
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GenotypeQuality
all individuals: 30461
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3741
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 3.076638e6

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3857
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4710
bin: 6.75e1
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: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

FS
type: SiteQuality
SIO_000300: 2.026e0

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.264e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 3.076638e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
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variant carriers: 0

GenotypeQuality
all individuals: 3953
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3857
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 286
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3741
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.731002250302925e-4
allele num: 11554
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: 26
allele frequency: 2.618855761482675e-3
allele num: 9928
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.076638e6

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

FS
type: SiteQuality
SIO_000300: 2.026e0

QD
type: SiteQuality
SIO_000300: 1.264e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.547e0

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 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: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.57e-1

FS
type: SiteQuality
SIO_000300: 3.361e0

MQ
type: SiteQuality
SIO_000300: 5.788e1

DP
type: SiteQuality
SIO_000300: 3.080395e6

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

BaseQRankSum
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SIO_000300: -2.901e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.213e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 2266
bin: 7.25e1
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
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bin: 4.25e1
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GenotypeQuality
all individuals: 3902
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 2090
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 4001
bin: 8.25e1
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GenotypeQuality
all individuals: 3758
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.004924037710923e-5
allele num: 66612
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 3.03e-1

FS
type: SiteQuality
SIO_000300: 3.905e0

VQSLOD
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QD
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DP
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SIO_000300: 3.081785e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
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SIO_000300: 8.02e-1

MQ
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SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

InbreedingCoeff
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SIO_000300: 0.0e0

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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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.012882447665056e-4
allele num: 9936
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.004743747560573e-5
allele num: 66614
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

East Asian
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allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

QD
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 3.083082e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.6242e1

DP
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SIO_000300: 3.08527e6

BaseQRankSum
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SIO_000300: -2.931e0

QD
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SIO_000300: 1.063e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.588e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 5.891e1

BaseQRankSum
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SIO_000300: -4.2e-1

ClippingRankSum
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SIO_000300: 1.49e0

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.184e1

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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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.85e-1

DP
type: SiteQuality
SIO_000300: 3.088358e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.571e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 9

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

Other
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African
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South Asian
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East Asian
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allele frequency: 1.040703052728955e-3
allele num: 8648
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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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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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Latino
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allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

European (Finnish)
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FS
type: SiteQuality
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MQ
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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Other
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DP
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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FS
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SIO_000300: 2.007e0

VQSLOD
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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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: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

Other
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South Asian
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Latino
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East Asian
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African
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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FS
type: SiteQuality
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DP
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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South Asian
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 66710
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Latino
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African
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Other
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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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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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

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

Latino
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allele frequency: 2.597852441981296e-4
allele num: 11548
num of homozygotes: 0

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

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

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

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

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

VQSLOD
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DP
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MQRankSum
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QD
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BaseQRankSum
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SIO_000300: 6.44e0

MQ
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SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 1.396e0

InbreedingCoeff
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SIO_000300: 6.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

Other
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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: 8650
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQ
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FS
type: SiteQuality
SIO_000300: 5.584e0

QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.494903465643362e-5
allele num: 66712
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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DP
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VQSLOD
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QD
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 4.5e-3

BaseQRankSum
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SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 5.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199184554502938e-4
allele num: 66712
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

QD
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
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SIO_000300: 5.961e1

VQSLOD
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BaseQRankSum
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SIO_000300: -1.346e0

FS
type: SiteQuality
SIO_000300: 2.527e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.949e1

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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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: 8650
num of homozygotes: 0

African
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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
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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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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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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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: 8
allele frequency: 6.933610677760444e-4
allele num: 11538
num of homozygotes: 0

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

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

South Asian
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East Asian
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Other
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African
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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MQ
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FS
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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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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.056201550387597e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 1.796e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.543e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4930
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8543
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

QD
type: SiteQuality
SIO_000300: 1.395e1

DP
type: SiteQuality
SIO_000300: 3.091148e6

VQSLOD
type: SiteQuality
SIO_000300: -1.535e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.465e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.028e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.54e0

GenotypeQuality
all individuals: 4142
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 30457
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66674
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

FS
type: SiteQuality
SIO_000300: 6.716e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.326e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

DP
type: SiteQuality
SIO_000300: 3.090903e6

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 5.863e1

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

GenotypeQuality
all individuals: 100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

QD
type: SiteQuality
SIO_000300: 1.692e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.09075e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

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

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 1.103e0

DP
type: SiteQuality
SIO_000300: 3.090075e6

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.218e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

GenotypeQuality
all individuals: 171
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.931e0

VQSLOD
type: SiteQuality
SIO_000300: -5.714e-1

DP
type: SiteQuality
SIO_000300: 3.089188e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.888e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.057e1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.196e0

DP
type: SiteQuality
SIO_000300: 3.084939e6

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

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

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 9.66e0

MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

FS
type: SiteQuality
SIO_000300: 4.402e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-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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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

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

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

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

Other
type: Population
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allele num: 904
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 4.1e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 3.084939e6

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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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.41e-1

QD
type: SiteQuality
SIO_000300: 7.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 6.449e0

VQSLOD
type: SiteQuality
SIO_000300: -5.503e-1

DP
type: SiteQuality
SIO_000300: 3.084513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

GenotypeQuality
all individuals: 4053
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30453
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8062
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

FS
type: SiteQuality
SIO_000300: 1.207e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 3.081378e6

QD
type: SiteQuality
SIO_000300: 1.659e1

MQ
type: SiteQuality
SIO_000300: 5.928e1