8-42177091-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177091
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177090
    reference: chr 8
allele count: 12
allele frequency: 1.042137075763365e-4
allele num: 115148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+160delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1511-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.392-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+160delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.848-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1680delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+160delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1562delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*798-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1517-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.409+160delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*336-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1340-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11626delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1078-4delT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1275-4delT
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17721
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: AT
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

8-42177093-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177093
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177094
    reference: chr 8
allele count: 1
allele frequency: 8.54978540038645e-6
allele num: 116962
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*336-10_*336-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1556_1557insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1340-10_1340-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.409+154_409+155insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11632_106-11631insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1674_1675insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1511-10_1511-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1517-10_1517-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*798-10_*798-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1275-10_*1275-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+154_1516+155insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.848-10_848-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1078-10_*1078-9insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+154_*1274+155insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+154_1516+155insG
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.392-10_392-9insG
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

8-42177116-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177116
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177116
    reference: chr 8
allele count: 1
allele frequency: 8.349615082744685e-6
allele num: 119766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+177G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1530G>T
  hgvsp: ENST00000520810.1:c.1530G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1524G>T
  hgvsp: ENST00000520835.1:c.1524G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+177G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.861G>T
  hgvsp: ENST00000379708.3:c.861G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1697G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*349G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1091G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*811G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1288G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1353G>T
  hgvsp: ENST00000416505.2:c.1353G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+177G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.405G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1579G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-155G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11609G>T
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu510Leu
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-42177127-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177127
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177127
    reference: chr 8
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1299G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1708G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*822G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-144G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*360G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.872G>A
  hgvsp: ENSP00000369030.3:p.Trp291Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1102G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1364G>A
  hgvsp: ENSP00000404920.2:p.Trp455Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1541G>A
  hgvsp: ENSP00000430684.1:p.Trp514Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+188G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11598G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+188G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.416G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+188G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1590G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1535G>A
  hgvsp: ENSP00000430868.1:p.Trp512Ter
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp514Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

8-42177146-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177146
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177146
    reference: chr 8
allele count: 2
allele frequency: 1.674873547047198e-5
allele num: 119412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.435T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1560T>C
  hgvsp: ENST00000520810.1:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1383T>C
  hgvsp: ENST00000416505.2:c.1383T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1727T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+207T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*841T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-125T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.891T>C
  hgvsp: ENST00000379708.3:c.891T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1121T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+207T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11579T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1554T>C
  hgvsp: ENST00000520835.1:c.1554T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1318T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*379T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+207T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1609T>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala520Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS

8-42177152-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177152
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177152
    reference: chr 8
allele count: 1
allele frequency: 8.383635144198524e-6
allele num: 119280
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+213G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1566G>C
  hgvsp: ENSP00000430684.1:p.Glu522Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1127G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+213G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.441G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-119G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*385G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.897G>C
  hgvsp: ENSP00000369030.3:p.Glu299Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1560G>C
  hgvsp: ENSP00000430868.1:p.Glu520Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1389G>C
  hgvsp: ENSP00000404920.2:p.Glu463Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1615G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11573G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1733G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+213G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*847G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1324G>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu522Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-42177152-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177152
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177152
    reference: chr 8
allele count: 4
allele frequency: 3.35345405767941e-5
allele num: 119280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*385G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1733G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.897G>T
  hgvsp: ENSP00000369030.3:p.Glu299Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1389G>T
  hgvsp: ENSP00000404920.2:p.Glu463Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1560G>T
  hgvsp: ENSP00000430868.1:p.Glu520Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*847G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+213G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-119G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1615G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1127G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1324G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1566G>T
  hgvsp: ENSP00000430684.1:p.Glu522Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+213G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.441G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11573G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+213G>T
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu522Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS

8-42177162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177162
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177162
    reference: chr 8
allele count: 1
allele frequency: 8.422613031466883e-6
allele num: 118728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1576C>T
  hgvsp: ENSP00000430684.1:p.Arg526Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+223C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11563C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1399C>T
  hgvsp: ENSP00000404920.2:p.Arg467Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1137C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*395C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.907C>T
  hgvsp: ENSP00000369030.3:p.Arg303Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1625C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1334C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1570C>T
  hgvsp: ENSP00000430868.1:p.Arg524Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-109C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+223C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.451C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*857C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1743C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+223C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg526Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

8-42177163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177163
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177163
    reference: chr 8
allele count: 1076
allele frequency: 9.06578592612564e-3
allele num: 118688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*396G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+224G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1577G>A
  hgvsp: ENSP00000430684.1:p.Arg526Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+224G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.908G>A
  hgvsp: ENSP00000369030.3:p.Arg303Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.452G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1571G>A
  hgvsp: ENSP00000430868.1:p.Arg524Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1335G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1400G>A
  hgvsp: ENSP00000404920.2:p.Arg467Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1626G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1138G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*858G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1744G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+224G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11562G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-108G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 60
genotype quality: GenotypeQuality
hgvs: p.Arg526Gln
num of homozygotes: 59
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

8-42177171-G-GACT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177171
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177174
    reference: chr 8
allele count: 2
allele frequency: 1.691990118777706e-5
allele num: 118204
alternate allele: GACT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+233_*1274+235dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11553_106-11551dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1401+8_1401+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*859+8_*859+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1753_1755dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+233_1516+235dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1336+8_*1336+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.909+8_909+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1578+8_1578+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1572+8_1572+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1139+8_*1139+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+233_1516+235dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*397+8_*397+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.453+8_453+10dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-99_410-97dupACT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1635_1637dupACT
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1578+8_1578+10dupACT
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

8-42177179-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177179
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177179
    reference: chr 8
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+240T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.909+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1760T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.453+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+240T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+240T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1642T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1578+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1139+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1401+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*859+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*397+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11546T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1336+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1572+15T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-92T>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

8-42177187-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177187
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177187
    reference: chr 8
allele count: 14
allele frequency: 1.198835417023463e-4
allele num: 116780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11538C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+248C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1401+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1768C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1650C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1578+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*859+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+248C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-84C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.453+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*397+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+248C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1336+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1139+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1572+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.909+23C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18273
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

8-42177198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42177198
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42177198
    reference: chr 8
allele count: 2
allele frequency: 1.726221301570861e-5
allele num: 115860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1572+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-11527A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1578+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1516+259A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000522785
  gene symbol: IKBKB
  hgvsc: ENST00000522785.1:n.410-73A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517917
  gene symbol: IKBKB
  hgvsc: ENST00000517917.1:n.1661A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1336+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1274+259A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000517502
  gene symbol: IKBKB
  hgvsc: ENST00000517502.1:n.453+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.1779A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1516+259A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*859+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.909+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1139+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1401+34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*397+34A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-42178208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178208
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178208
    reference: chr 8
allele count: 1
allele frequency: 8.28239659427852e-6
allele num: 120738
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2789A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-45A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10517A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

8-42178211-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178211
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178211
    reference: chr 8
allele count: 5
allele frequency: 4.142639358388016e-5
allele num: 120696
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2792C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-42C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10514C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-42C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4405
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

8-42178212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178212
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178212
    reference: chr 8
allele count: 2
allele frequency: 1.656616526406467e-5
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2793G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-41G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10513G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

8-42178216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178216
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178216
    reference: chr 8
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2797A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-37A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10509A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-37A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19622
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

8-42178219-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178219
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178219
    reference: chr 8
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2800A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10506A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-34A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-34A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

8-42178231-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178231
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178231
    reference: chr 8
allele count: 3
allele frequency: 2.482950407203867e-5
allele num: 120824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10494A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.8A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2812A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-22A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-22A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

8-42178236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178236
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178236
    reference: chr 8
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2817C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.13C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-17C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10489C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-17C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19870
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

8-42178237-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178237
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178237
    reference: chr 8
allele count: 3
allele frequency: 2.483402592672307e-5
allele num: 120802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2818A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.14A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-16A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10488A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-42178248-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178248
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178248
    reference: chr 8
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10477A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.25A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-5A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2829A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-5A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19940
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1579-5A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-42178250-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178250
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178250
    reference: chr 8
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10475T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1275-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1402-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2831T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1337-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*860-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1579-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1517-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1517-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.910-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1573-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*398-3T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.27T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1140-3T>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1579-3T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-42178258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178258
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178258
    reference: chr 8
allele count: 11
allele frequency: 9.121515166592036e-5
allele num: 120594
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1578C>T
  hgvsp: ENST00000520835.1:c.1578C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.35C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1584C>T
  hgvsp: ENST00000520810.1:c.1584C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1522C>T
  hgvsp: ENSP00000428922.1:p.Arg508Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.915C>T
  hgvsp: ENST00000379708.3:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*865C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*403C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1342C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10467C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1145C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1280C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1522C>T
  hgvsp: ENSP00000428186.1:p.Arg508Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2839C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1407C>T
  hgvsp: ENST00000416505.2:c.1407C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg508Ter
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

8-42178259-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178259
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178259
    reference: chr 8
allele count: 26
allele frequency: 2.155958738266609e-4
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1408G>A
  hgvsp: ENSP00000404920.2:p.Glu470Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2840G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1523G>A
  hgvsp: ENSP00000428186.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1579G>A
  hgvsp: ENSP00000430868.1:p.Glu527Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*866G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1146G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*404G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1343G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.36G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1523G>A
  hgvsp: ENSP00000428922.1:p.Arg508Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.916G>A
  hgvsp: ENSP00000369030.3:p.Glu306Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10466G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1585G>A
  hgvsp: ENSP00000430684.1:p.Glu529Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1281G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14419
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19968
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu529Lys
num of homozygotes: 1
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-42178274-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178274
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178274
    reference: chr 8
allele count: 2
allele frequency: 1.6655008160954e-5
allele num: 120084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1358G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1538G>A
  hgvsp: ENSP00000428922.1:p.Gly513Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1538G>A
  hgvsp: ENSP00000428186.1:p.Gly513Asp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1594G>A
  hgvsp: ENSP00000430868.1:p.Val532Ile
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1296G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*881G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1423G>A
  hgvsp: ENSP00000404920.2:p.Val475Ile
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2855G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.931G>A
  hgvsp: ENSP00000369030.3:p.Val311Ile
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1600G>A
  hgvsp: ENSP00000430684.1:p.Val534Ile
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10451G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1161G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.51G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*419G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4374
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val534Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-42178280-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178280
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178280
    reference: chr 8
allele count: 1
allele frequency: 8.350730688935283e-6
allele num: 119750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1544C>A
  hgvsp: ENSP00000428186.1:p.Thr515Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1600C>A
  hgvsp: ENST00000520835.1:c.1600C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*425C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1302C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1429C>A
  hgvsp: ENST00000416505.2:c.1429C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1606C>A
  hgvsp: ENST00000520810.1:c.1606C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.937C>A
  hgvsp: ENST00000379708.3:c.937C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2861C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1544C>A
  hgvsp: ENSP00000428922.1:p.Thr515Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.57C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*887C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1364C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1167C>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10445C>A
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr515Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

8-42178280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178280
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178280
    reference: chr 8
allele count: 225
allele frequency: 1.878914405010438e-3
allele num: 119750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1364C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1544C>T
  hgvsp: ENSP00000428922.1:p.Thr515Met
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.937C>T
  hgvsp: ENSP00000369030.3:p.Arg313Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1167C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1302C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1544C>T
  hgvsp: ENSP00000428186.1:p.Thr515Met
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1429C>T
  hgvsp: ENSP00000404920.2:p.Arg477Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*887C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1600C>T
  hgvsp: ENSP00000430868.1:p.Arg534Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2861C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1606C>T
  hgvsp: ENSP00000430684.1:p.Arg536Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10445C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.57C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19626
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg536Trp
num of homozygotes: 6
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-42178281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178281
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178281
    reference: chr 8
allele count: 5
allele frequency: 4.174668113884946e-5
allele num: 119770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10444G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.938G>A
  hgvsp: ENSP00000369030.3:p.Arg313Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1601G>A
  hgvsp: ENSP00000430868.1:p.Arg534Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1430G>A
  hgvsp: ENSP00000404920.2:p.Arg477Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1303G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2862G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1607G>A
  hgvsp: ENSP00000430684.1:p.Arg536Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1168G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.58G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1545G>A
  hgvsp: ENST00000521661.1:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1365G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*888G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1545G>A
  hgvsp: ENST00000520655.1:c.1545G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*426G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg536Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-42178292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178292
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178292
    reference: chr 8
allele count: 1
allele frequency: 8.408024618696084e-6
allele num: 118934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1556C>T
  hgvsp: ENSP00000428922.1:p.Ser519Phe
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1441C>T
  hgvsp: ENST00000416505.2:c.1441C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1376C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10433C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1556C>T
  hgvsp: ENSP00000428186.1:p.Ser519Phe
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2873C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.69C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1618C>T
  hgvsp: ENST00000520810.1:c.1618C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1612C>T
  hgvsp: ENST00000520835.1:c.1612C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1314C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*437C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.949C>T
  hgvsp: ENST00000379708.3:c.949C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*899C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1179C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser519Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

8-42178300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178300
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178300
    reference: chr 8
allele count: 4
allele frequency: 3.380776902532202e-5
allele num: 118316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.957C>T
  hgvsp: ENST00000379708.3:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1564C>T
  hgvsp: ENSP00000428186.1:p.Arg522Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10425C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.77C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1620C>T
  hgvsp: ENST00000520835.1:c.1620C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2881C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1626C>T
  hgvsp: ENST00000520810.1:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1187C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1449C>T
  hgvsp: ENST00000416505.2:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1322C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1564C>T
  hgvsp: ENSP00000428922.1:p.Arg522Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*445C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1384C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*907C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg522Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

8-42178301-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178301
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178301
    reference: chr 8
allele count: 2
allele frequency: 1.69284940411701e-5
allele num: 118144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.78G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2882G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1565G>A
  hgvsp: ENSP00000428186.1:p.Arg522Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1627G>A
  hgvsp: ENSP00000430684.1:p.Asp543Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10424G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.958G>A
  hgvsp: ENSP00000369030.3:p.Asp320Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*908G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1565G>A
  hgvsp: ENSP00000428922.1:p.Arg522Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1450G>A
  hgvsp: ENSP00000404920.2:p.Asp484Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*446G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1385G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1188G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1621G>A
  hgvsp: ENSP00000430868.1:p.Asp541Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1323G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp543Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-42178310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178310
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178310
    reference: chr 8
allele count: 1
allele frequency: 8.507018290089324e-6
allele num: 117550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.87G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1574G>A
  hgvsp: ENSP00000428922.1:p.Gly525Glu
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*455G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1197G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1332G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1394G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.967G>A
  hgvsp: ENSP00000369030.3:p.Asp323Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*917G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1459G>A
  hgvsp: ENSP00000404920.2:p.Asp487Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1636G>A
  hgvsp: ENSP00000430684.1:p.Asp546Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1630G>A
  hgvsp: ENSP00000430868.1:p.Asp544Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2891G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1574G>A
  hgvsp: ENSP00000428186.1:p.Gly525Glu
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10415G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asp546Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

8-42178316-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178316
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178316
    reference: chr 8
allele count: 1
allele frequency: 8.547739123001965e-6
allele num: 116990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1580C>T
  hgvsp: ENSP00000428922.1:p.Thr527Ile
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1642C>T
  hgvsp: ENSP00000430684.1:p.Gln548Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1580C>T
  hgvsp: ENSP00000428186.1:p.Thr527Ile
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.973C>T
  hgvsp: ENSP00000369030.3:p.Gln325Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1465C>T
  hgvsp: ENSP00000404920.2:p.Gln489Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.93C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1338C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*461C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1400C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2897C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1203C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1636C>T
  hgvsp: ENSP00000430868.1:p.Gln546Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10409C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*923C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln548Ter
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

8-42178328-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178328
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178328
    reference: chr 8
allele count: 5
allele frequency: 4.316894598701478e-5
allele num: 115824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2909A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1592A>G
  hgvsp: ENSP00000428922.1:p.His531Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1350A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10397A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1215A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1477A>G
  hgvsp: ENSP00000404920.2:p.Met493Val
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1412A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*473A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1592A>G
  hgvsp: ENSP00000428186.1:p.His531Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*935A>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1654A>G
  hgvsp: ENSP00000430684.1:p.Met552Val
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1648A>G
  hgvsp: ENSP00000430868.1:p.Met550Val
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.985A>G
  hgvsp: ENSP00000369030.3:p.Met329Val
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.105A>G
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met552Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

8-42178329-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178329
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178329
    reference: chr 8
allele count: 1
allele frequency: 8.636622735045688e-6
allele num: 115786
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1655T>A
  hgvsp: ENSP00000430684.1:p.Met552Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*474T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1351T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.106T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*936T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.986T>A
  hgvsp: ENSP00000369030.3:p.Met329Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1413T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2910T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1478T>A
  hgvsp: ENSP00000404920.2:p.Met493Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1216T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1649T>A
  hgvsp: ENSP00000430868.1:p.Met550Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1593T>A
  hgvsp: ENSP00000428922.1:p.His531Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10396T>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1593T>A
  hgvsp: ENSP00000428186.1:p.His531Gln
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met552Lys
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

8-42178333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178333
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178333
    reference: chr 8
allele count: 1
allele frequency: 8.677241331435909e-6
allele num: 115244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10392C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1355C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.990C>T
  hgvsp: ENST00000379708.3:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*940C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.110C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1220C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1597C>T
  hgvsp: ENSP00000428186.1:p.Pro533Ser
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1597C>T
  hgvsp: ENSP00000428922.1:p.Pro533Ser
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1653C>T
  hgvsp: ENST00000520835.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*478C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1482C>T
  hgvsp: ENST00000416505.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1659C>T
  hgvsp: ENST00000520810.1:c.1659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1417C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2914C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro533Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

8-42178334-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178334
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178334
    reference: chr 8
allele count: 2
allele frequency: 1.737076153418566e-5
allele num: 115136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1654C>T
  hgvsp: ENSP00000430868.1:p.Arg552Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.111C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*941C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1356C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1418C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.991C>T
  hgvsp: ENSP00000369030.3:p.Arg331Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*479C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10391C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1598C>T
  hgvsp: ENSP00000428186.1:p.Pro533Leu
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1598C>T
  hgvsp: ENSP00000428922.1:p.Pro533Leu
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1483C>T
  hgvsp: ENSP00000404920.2:p.Arg495Trp
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1221C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2915C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1660C>T
  hgvsp: ENSP00000430684.1:p.Arg554Trp
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17789
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg554Trp
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-42178341-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178341
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178341
    reference: chr 8
allele count: 1
allele frequency: 8.765624726074227e-6
allele num: 114082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*948A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1425A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.118A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1490A>C
  hgvsp: ENSP00000404920.2:p.Gln497Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1667A>C
  hgvsp: ENSP00000430684.1:p.Gln556Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1363A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*486A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1605A>C
  hgvsp: ENST00000521661.1:c.1605A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.998A>C
  hgvsp: ENSP00000369030.3:p.Gln333Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1661A>C
  hgvsp: ENSP00000430868.1:p.Gln554Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1605A>C
  hgvsp: ENST00000520655.1:c.1605A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10384A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2922A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1228A>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln556Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum

8-42178343-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178343
    reference: chr 8
allele count: 11
allele frequency: 9.659629772735256e-5
allele num: 113876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1669G>A
  hgvsp: ENSP00000430684.1:p.Gly557Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1663G>A
  hgvsp: ENSP00000430868.1:p.Gly555Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1000G>A
  hgvsp: ENSP00000369030.3:p.Gly334Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1607G>A
  hgvsp: ENSP00000428922.1:p.Gly536Glu
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1230G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1427G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2924G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*488G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1365G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1492G>A
  hgvsp: ENSP00000404920.2:p.Gly498Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.120G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1607G>A
  hgvsp: ENSP00000428186.1:p.Gly536Glu
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10382G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*950G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly557Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

8-42178343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178343
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178343
    reference: chr 8
allele count: 2
allele frequency: 1.756296322315501e-5
allele num: 113876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1607G>C
  hgvsp: ENSP00000428186.1:p.Gly536Ala
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1669G>C
  hgvsp: ENSP00000430684.1:p.Gly557Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*488G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2924G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1607G>C
  hgvsp: ENSP00000428922.1:p.Gly536Ala
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*950G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1000G>C
  hgvsp: ENSP00000369030.3:p.Gly334Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1365G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1492G>C
  hgvsp: ENSP00000404920.2:p.Gly498Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10382G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1663G>C
  hgvsp: ENSP00000430868.1:p.Gly555Arg
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.120G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1427G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1230G>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly557Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
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: QD

8-42178350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178350
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178350
    reference: chr 8
allele count: 6
allele frequency: 5.335894562723441e-5
allele num: 112446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*495C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1670C>T
  hgvsp: ENSP00000430868.1:p.Thr557Met
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.127C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1614C>T
  hgvsp: ENST00000521661.1:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1237C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2931C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*957C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1372C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1676C>T
  hgvsp: ENSP00000430684.1:p.Thr559Met
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1007C>T
  hgvsp: ENSP00000369030.3:p.Thr336Met
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1499C>T
  hgvsp: ENSP00000404920.2:p.Thr500Met
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1614C>T
  hgvsp: ENST00000520655.1:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1434C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10375C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr559Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

8-42178351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178351
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178351
    reference: chr 8
allele count: 6
allele frequency: 5.335989470314112e-5
allele num: 112444
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1373G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1677G>A
  hgvsp: ENST00000520810.1:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1008G>A
  hgvsp: ENST00000379708.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*958G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10374G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1238G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1615G>A
  hgvsp: ENSP00000428922.1:p.Ala539Thr
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1671G>A
  hgvsp: ENST00000520835.1:c.1671G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1500G>A
  hgvsp: ENST00000416505.2:c.1500G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2932G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*496G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.128G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1615G>A
  hgvsp: ENSP00000428186.1:p.Ala539Thr
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1435G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala539Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-42178351-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178351
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178351
    reference: chr 8
allele count: 84
allele frequency: 7.470385258439757e-4
allele num: 112444
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2932G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*958G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1671G>T
  hgvsp: ENST00000520835.1:c.1671G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1373G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10374G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1615G>T
  hgvsp: ENSP00000428922.1:p.Ala539Ser
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1500G>T
  hgvsp: ENST00000416505.2:c.1500G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*496G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1615G>T
  hgvsp: ENSP00000428186.1:p.Ala539Ser
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1238G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1677G>T
  hgvsp: ENST00000520810.1:c.1677G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.128G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1008G>T
  hgvsp: ENST00000379708.3:c.1008G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1435G>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 13903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17280
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ala539Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

8-42178355-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178355
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178355
    reference: chr 8
allele count: 1
allele frequency: 8.964589870013446e-6
allele num: 111550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*962G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1242G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1439G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1681G>C
  hgvsp: ENSP00000430684.1:p.Asp561His
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.132G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1504G>C
  hgvsp: ENSP00000404920.2:p.Asp502His
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1377G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10370G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1012G>C
  hgvsp: ENSP00000369030.3:p.Asp338His
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2936G>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1675G>C
  hgvsp: ENSP00000430868.1:p.Asp559His
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1619G>C
  hgvsp: ENSP00000428186.1:p.Gly540Ala
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1619G>C
  hgvsp: ENSP00000428922.1:p.Gly540Ala
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*500G>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp561His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-42178357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178357
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178357
    reference: chr 8
allele count: 7
allele frequency: 6.283888110883694e-5
allele num: 111396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*964C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1683C>T
  hgvsp: ENST00000520810.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1621C>T
  hgvsp: ENSP00000428186.1:p.Arg541Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1621C>T
  hgvsp: ENSP00000428922.1:p.Arg541Ter
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10368C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*502C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1014C>T
  hgvsp: ENST00000379708.3:c.1014C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1677C>T
  hgvsp: ENST00000520835.1:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1506C>T
  hgvsp: ENST00000416505.2:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1441C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.134C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1244C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1379C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2938C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7590
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg541Ter
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

8-42178358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178358
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178358
    reference: chr 8
allele count: 1
allele frequency: 8.984564518157805e-6
allele num: 111302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1245G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*965G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1507G>A
  hgvsp: ENSP00000404920.2:p.Asp503Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10367G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1622G>A
  hgvsp: ENSP00000428186.1:p.Arg541Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1622G>A
  hgvsp: ENSP00000428922.1:p.Arg541Gln
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*503G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1684G>A
  hgvsp: ENSP00000430684.1:p.Asp562Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1678G>A
  hgvsp: ENSP00000430868.1:p.Asp560Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1015G>A
  hgvsp: ENSP00000369030.3:p.Asp339Asn
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.135G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2939G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1442G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1380G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp562Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

8-42178362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178362
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178362
    reference: chr 8
allele count: 1
allele frequency: 9.060925664165851e-6
allele num: 110364
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688T>C
  hgvsp: ENSP00000430684.1:p.Leu563Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019T>C
  hgvsp: ENSP00000369030.3:p.Leu340Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.139T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511T>C
  hgvsp: ENSP00000404920.2:p.Leu504Pro
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626T>C
  hgvsp: ENST00000521661.1:c.1626T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10363T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626T>C
  hgvsp: ENST00000520655.1:c.1626T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682T>C
  hgvsp: ENSP00000430868.1:p.Leu561Pro
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu563Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-42178364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178364
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178364
    reference: chr 8
allele count: 1
allele frequency: 9.070294784580499e-6
allele num: 110250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.141T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+2T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10361T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+2T>C
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1688+2T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

8-42178373-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178373
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178373
    reference: chr 8
allele count: 36
allele frequency: 3.306696059520529e-4
allele num: 108870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10352G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.150G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+11G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+11G>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13527
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16522
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

8-42178380-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178380
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178380
    reference: chr 8
allele count: 1
allele frequency: 9.259602207489166e-6
allele num: 107996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.157G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10345G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+18G>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+18G>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-42178381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178381
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178381
    reference: chr 8
allele count: 1
allele frequency: 9.311680572109654e-6
allele num: 107392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10344G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.158G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+19G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+19G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-42178382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178382
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178382
    reference: chr 8
allele count: 1
allele frequency: 9.330621232761677e-6
allele num: 107174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.159C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+20C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10343C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2840
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7331
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-42178384-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178384
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178386
    reference: chr 8
allele count: 3
allele frequency: 2.794336810730253e-5
allele num: 107360
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+25_2943+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+25_*507+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.164_165dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+25_*1249+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+25_1511+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+25_1626+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+25_1688+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10338_106-10337dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+25_1626+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+25_1019+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+25_*969+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+25_1682+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+25_*1384+26dupCT
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+25_*1446+26dupCT
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

8-42178385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178385
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178385
    reference: chr 8
allele count: 1
allele frequency: 9.316712318557028e-6
allele num: 107334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10340C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.162C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+23C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+23C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

8-42178399-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178399
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178399
    reference: chr 8
allele count: 1
allele frequency: 9.387555855957342e-6
allele num: 106524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.176C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+37C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10326C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-42178407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178407
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178407
    reference: chr 8
allele count: 2
allele frequency: 1.88775413890095e-5
allele num: 105946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.184C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10318C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+45C>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6623
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

8-42178410-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42178410
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42178410
    reference: chr 8
allele count: 1
allele frequency: 9.465573708422467e-6
allele num: 105646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1626+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*507+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1626+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1249+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1384+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-10315C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1688+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1446+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2943+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1019+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.187C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1511+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*969+48C>T
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1682+48C>T
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-42179369-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179369
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179369
    reference: chr 8
allele count: 2
allele frequency: 1.840231133030308e-5
allele num: 108682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1683-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1250-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*508-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1146C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1689-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1627-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1512-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2944-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1385-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*970-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1447-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1020-45C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9356C>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1627-45C>G
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18462
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

8-42179371-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179371
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179371
    reference: chr 8
allele count: 51
allele frequency: 4.680273107701343e-4
allele num: 108968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1385-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1683-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*970-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1689-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1447-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1627-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1148T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9354T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*508-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1512-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1627-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2944-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1250-43T>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1020-43T>C
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS

8-42179403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179403
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179403
    reference: chr 8
allele count: 1
allele frequency: 8.683721495684191e-6
allele num: 115158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1627-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1020-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1683-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1385-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2944-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1689-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1627-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*970-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1180G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1447-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1512-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*508-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1250-11G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9322G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-42179415-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179415
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179415
    reference: chr 8
allele count: 1
allele frequency: 8.51368148614824e-6
allele num: 117458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1386G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1513G>A
  hgvsp: ENSP00000404920.2:p.Glu505Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1690G>A
  hgvsp: ENSP00000430684.1:p.Glu564Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1192G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9310G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1628G>A
  hgvsp: ENSP00000428922.1:p.Arg543Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1021G>A
  hgvsp: ENSP00000369030.3:p.Glu341Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*971G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*509G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1684G>A
  hgvsp: ENSP00000430868.1:p.Glu562Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2945G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1251G>A
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1628G>A
  hgvsp: ENSP00000428186.1:p.Arg543Lys
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1448G>A
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu564Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-42179427-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179427
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179427
    reference: chr 8
allele count: 193
allele frequency: 1.623540495979003e-3
allele num: 118876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1696A>C
  hgvsp: ENST00000520835.1:c.1696A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9298A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1263A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1640A>C
  hgvsp: ENSP00000428186.1:p.Lys547Thr
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1640A>C
  hgvsp: ENSP00000428922.1:p.Lys547Thr
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1398A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1525A>C
  hgvsp: ENST00000416505.2:c.1525A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1033A>C
  hgvsp: ENST00000379708.3:c.1033A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1460A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*983A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1204A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*521A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1702A>C
  hgvsp: ENST00000520810.1:c.1702A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2957A>C
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33028
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11433
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys547Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-42179448-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179448
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179448
    reference: chr 8
allele count: 1
allele frequency: 8.340283569641367e-6
allele num: 119900
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*542A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1284A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1225A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1419A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1481A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1054A>C
  hgvsp: ENST00000379708.3:c.1054A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1661A>C
  hgvsp: ENSP00000428922.1:p.Lys554Thr
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9277A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1723A>C
  hgvsp: ENST00000520810.1:c.1723A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1546A>C
  hgvsp: ENST00000416505.2:c.1546A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1661A>C
  hgvsp: ENSP00000428186.1:p.Lys554Thr
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*1004A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2978A>C
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1717A>C
  hgvsp: ENST00000520835.1:c.1717A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/5960
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys554Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

8-42179477-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 42179477
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 42179477
    reference: chr 8
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428186
  ensembl transcript: ENST00000521661
  gene symbol: IKBKB
  hgvsc: ENST00000521661.1:c.1676+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428799
  ensembl transcript: ENST00000517890
  gene symbol: IKBKB
  hgvsc: ENST00000517890.1:c.*1496+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000404920
  ensembl transcript: ENST00000416505
  gene symbol: IKBKB
  hgvsc: ENST00000416505.2:c.1561+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000519938
  gene symbol: IKBKB
  hgvsc: ENST00000519938.1:n.1240+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000339151
  ensembl transcript: ENST00000342222
  gene symbol: IKBKB
  hgvsc: ENST00000342222.2:c.*1299+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000369030
  ensembl transcript: ENST00000379708
  gene symbol: IKBKB
  hgvsc: ENST00000379708.3:c.1069+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430557
  ensembl transcript: ENST00000518679
  gene symbol: IKBKB
  hgvsc: ENST00000518679.1:c.*1019+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430684
  ensembl transcript: ENST00000520810
  gene symbol: IKBKB
  hgvsc: ENST00000520810.1:c.1738+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428892
  ensembl transcript: ENST00000522147
  gene symbol: IKBKB
  hgvsc: ENST00000522147.1:c.106-9248T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000428922
  ensembl transcript: ENST00000520655
  gene symbol: IKBKB
  hgvsc: ENST00000520655.1:c.1676+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430114
  ensembl transcript: ENST00000523517
  gene symbol: IKBKB
  hgvsc: ENST00000523517.1:c.*557+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000430868
  ensembl transcript: ENST00000520835
  gene symbol: IKBKB
  hgvsc: ENST00000520835.1:c.1732+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl transcript: ENST00000520201
  gene symbol: IKBKB
  hgvsc: ENST00000520201.1:n.2993+14T>G
  variant of: http://identifiers.org/hgnc/5960
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104365
  ensembl protein: ENSP00000429239
  ensembl transcript: ENST00000523105
  gene symbol: IKBKB
  hgvsc: ENST00000523105.1:c.*1434+14T>G
  variant of: http://identifiers.org/hgnc/5960
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 1627
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9465
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3067
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 3485
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18035
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 64
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 588
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2616
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1151
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 300
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 2.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1725
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1564
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3434
bin: 2.25e1
variant carriers: 4

GenotypeQuality
all individuals: 392
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3270
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6377
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.244090569793481e-4
allele num: 8038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.100663542878707e-4
allele num: 63598
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.017501017501017e-4
allele num: 9828
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.97827258035554e-5
allele num: 11138
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.319957761351637e-4
allele num: 15152
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 6.311e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 4.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.439e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.047e0

DP
type: SiteQuality
SIO_000300: 1.646991e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeDepth
all individuals: 9461
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2759
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 597
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18193
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 162
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 815
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 63
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3247
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3006
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 7.25e1
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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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European (Non-Finnish)
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allele frequency: 1.548227279764669e-5
allele num: 64590
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele num: 15566
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East 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: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -2.04e-1

FS
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: 6.18e-1

MQRankSum
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SIO_000300: -1.62e-1

ClippingRankSum
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SIO_000300: 2.1e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele frequency: 3.021969719863407e-5
allele num: 66182
num of homozygotes: 0

European (Finnish)
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East Asian
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African
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num of homozygotes: 0

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

East Asian
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African
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South Asian
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European (Finnish)
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Latino
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Other
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele frequency: 0.0e0
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Other
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South Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 82

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

European (Non-Finnish)
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Latino
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allele frequency: 2.601908065915004e-4
allele num: 11530
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East Asian
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Other
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allele frequency: 4.504504504504504e-3
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African
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allele frequency: 1.164596273291925e-3
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South Asian
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allele frequency: 3.111050994183687e-3
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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allele num: 8648
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African
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Latino
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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DP
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MQ
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FS
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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South Asian
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 13
allele frequency: 1.984187551512562e-4
allele num: 65518
num of homozygotes: 0

Other
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European (Finnish)
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Latino
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East Asian
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allele frequency: 1.157407407407407e-4
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African
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South Asian
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FS
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QD
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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Other
type: Population
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Latino
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African
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European (Non-Finnish)
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FS
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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MQRankSum
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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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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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VQSLOD
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DP
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QD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele num: 66334
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European (Finnish)
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South Asian
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East Asian
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African
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Latino
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Other
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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Latino
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African
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South Asian
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Other
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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DP
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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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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European (Non-Finnish)
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Other
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East Asian
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African
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South Asian
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European (Finnish)
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Latino
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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QD
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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East Asian
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Latino
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African
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European (Non-Finnish)
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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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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European (Non-Finnish)
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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DP
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MQ
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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QD
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ReadPosRankSum
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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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African
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allele frequency: 9.632055480639569e-5
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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East Asian
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allele frequency: 0.0e0
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 2.890173410404624e-4
allele num: 10380
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66408
num of homozygotes: 0

FS
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QD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66400
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele num: 8634
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Other
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Latino
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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

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

QD
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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SIO_000300: 7.993e0

BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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 count: 0
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Other
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African
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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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num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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DP
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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Other
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Latino
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allele frequency: 6.91323885240235e-4
allele num: 11572
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European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66366
num of homozygotes: 0

South Asian
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FS
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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Other
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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 frequency: 3.164080156697303e-4
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Latino
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.268552581504503e-4
allele num: 15766
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 6.336e0

InbreedingCoeff
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SIO_000300: 1.0e-4

QD
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DP
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SIO_000300: 1.908925e6

VQSLOD
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SIO_000300: 1.38e0

BaseQRankSum
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SIO_000300: -1.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512035805007863e-5
allele num: 66136
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15562
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -4.1e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.82e-2

MQRankSum
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SIO_000300: 2.95e-1

DP
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SIO_000300: 1.921004e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 48
allele frequency: 7.257771864037741e-4
allele num: 66136
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.425909266161162e-5
allele num: 15562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 166
allele frequency: 2.510586811857229e-2
allele num: 6612
num of homozygotes: 5

Other
type: Population
allele count: 8
allele frequency: 9.070294784580499e-3
allele num: 882
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.921004e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.82e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.417661404184315e-5
allele num: 15582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.04814322003145e-5
allele num: 66136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -1.66e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 5.31e-1

BaseQRankSum
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QD
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SIO_000300: 1.183e1

VQSLOD
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SIO_000300: 1.8e0

ClippingRankSum
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SIO_000300: -1.213e0

DP
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SIO_000300: 1.902655e6

ReadPosRankSum
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SIO_000300: 1.39e0

GenotypeDepth
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variant carriers: 0

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

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

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: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
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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South Asian
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allele frequency: 0.0e0
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

European (Finnish)
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East Asian
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allele num: 8594
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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Other
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South Asian
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allele frequency: 1.365001365001365e-4
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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num of homozygotes: 0

Latino
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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DP
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele num: 64982
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele frequency: 1.544592382070372e-5
allele num: 64742
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European (Finnish)
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allele frequency: 0.0e0
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QD
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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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 frequency: 0.0e0
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.552505744271254e-5
allele num: 64412
num of homozygotes: 0

South Asian
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Other
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East Asian
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QD
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InbreedingCoeff
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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: 11
allele frequency: 1.710092655929358e-4
allele num: 64324
num of homozygotes: 0

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

African
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Other
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South 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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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.554629687208507e-5
allele num: 64324
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele num: 12088
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European (Finnish)
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num of homozygotes: 0

Other
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FS
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MQ
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MQRankSum
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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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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Finnish)
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Latino
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allele frequency: 3.502013657853266e-4
allele num: 11422
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African
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European (Non-Finnish)
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Other
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East Asian
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ClippingRankSum
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ReadPosRankSum
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MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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num of homozygotes: 0

Other
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Finnish)
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allele frequency: 7.578053955744165e-4
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
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allele count: 64
allele frequency: 1.002349256068912e-3
allele num: 63850
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 11
allele frequency: 9.635599159074983e-4
allele num: 11416
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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

InbreedingCoeff
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SIO_000300: 9.0e-4

ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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SIO_000300: -2.219e0

MQ
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SIO_000300: 5.96e1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.573415570520486e-5
allele num: 63556
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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allele frequency: 0.0e0
allele num: 11402
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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.44822373393802e-5
allele num: 63504
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 9.307520476545048e-5
allele num: 10744
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.1e0

ReadPosRankSum
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SIO_000300: 5.76e-1

BaseQRankSum
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SIO_000300: 3.55e0

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: -2.7e-3

MQRankSum
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MQ
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SIO_000300: 5.963e1

QD
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ClippingRankSum
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SIO_000300: -4.55e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Finnish)
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allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

South Asian
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East Asian
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allele count: 0
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 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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Other
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MQRankSum
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QD
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VQSLOD
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.782715615668365e-5
allele num: 11386
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QD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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FS
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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European (Finnish)
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InbreedingCoeff
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DP
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FS
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MQ
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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Latino
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Other
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MQ
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SIO_000300: 6.0e1

QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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InbreedingCoeff
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MQ
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DP
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MQRankSum
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FS
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele num: 61624
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Latino
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African
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Other
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.279548734094189e-5
allele num: 60984
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9208
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -9.56e-1

ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.644790947070627e-5
allele num: 60798
num of homozygotes: 0

Other
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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 frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

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

Latino
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allele frequency: 1.828153564899452e-4
allele num: 10940
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
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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DP
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ClippingRankSum
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SIO_000300: 2.97e-1

BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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FS
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 1.4e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61878
num of homozygotes: 0

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

African
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allele count: 49
allele frequency: 4.890219560878243e-3
allele num: 10020
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 9.120758847136082e-5
allele num: 10964
num of homozygotes: 0

South Asian
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allele count: 0
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Other
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allele frequency: 1.240694789081886e-3
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MQRankSum
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SIO_000300: 2.76e-1

InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 4.43e-1

DP
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MQ
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VQSLOD
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QD
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SIO_000300: 1.519e1

FS
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64812
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Other
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East Asian
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African
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FS
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524157902758726e-5
allele num: 65610
num of homozygotes: 0

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

South Asian
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MQ
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DP
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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GenotypeDepth
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variant carriers: 28

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

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1407
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8249
bin: 9.75e1
variant carriers: 193

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

GenotypeQuality
all individuals: 1868
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.267573696145125e-3
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 164
allele frequency: 2.482967448902347e-3
allele num: 66050
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.733402669440111e-3
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
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: 1
allele frequency: 6.77323218639935e-5
allele num: 14764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-2

QD
type: SiteQuality
SIO_000300: 1.288e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.809649e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

GenotypeDepth
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 262
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1770
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2235
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7658
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1888
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29082
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3077
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 1.028e1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.497e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

DP
type: SiteQuality
SIO_000300: 1.821847e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 431
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1771
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 121
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1264
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7773
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3141
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0