http://identifiers.org/exac.variant/8-28827632-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827632
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827632
    reference: chr 8
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.96A>C
  hgvsp: ENST00000519662.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.96A>C
  hgvsp: ENST00000397358.3:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.96A>C
  hgvsp: ENST00000287701.10:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.249A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.96A>C
  hgvsp: ENST00000558662.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.96A>C
  hgvsp: ENST00000519047.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.96A>C
  hgvsp: ENST00000560599.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.96A>C
  hgvsp: ENST00000521516.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.96A>C
  hgvsp: ENST00000355231.5:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.96A>C
  hgvsp: ENST00000403668.2:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.422A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.96A>C
  hgvsp: ENST00000524238.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.96A>C
  hgvsp: ENST00000444075.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.96A>C
  hgvsp: ENST00000523613.1:c.96A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg32Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

8-28827636-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827636
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827636
    reference: chr 8
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.100C>T
  hgvsp: ENSP00000287701.10:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.100C>T
  hgvsp: ENSP00000430110.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.100C>T
  hgvsp: ENSP00000430238.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.100C>T
  hgvsp: ENSP00000384261.2:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.100C>T
  hgvsp: ENSP00000453211.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.100C>T
  hgvsp: ENSP00000452827.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.100C>T
  hgvsp: ENSP00000430059.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.100C>T
  hgvsp: ENSP00000401769.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.100C>T
  hgvsp: ENSP00000453185.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.100C>T
  hgvsp: ENSP00000429767.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.426C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.100C>T
  hgvsp: ENSP00000380516.3:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.253C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.100C>T
  hgvsp: ENSP00000475196.1:p.Arg34Trp
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg34Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

8-28827639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827639
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827639
    reference: chr 8
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.103C>T
  hgvsp: ENSP00000452827.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.103C>T
  hgvsp: ENSP00000429767.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.429C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.103C>T
  hgvsp: ENSP00000287701.10:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.103C>T
  hgvsp: ENSP00000430110.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.103C>T
  hgvsp: ENSP00000453211.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.103C>T
  hgvsp: ENSP00000430238.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.103C>T
  hgvsp: ENSP00000430059.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.103C>T
  hgvsp: ENSP00000453185.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.103C>T
  hgvsp: ENSP00000384261.2:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.103C>T
  hgvsp: ENSP00000401769.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.103C>T
  hgvsp: ENSP00000475196.1:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.103C>T
  hgvsp: ENSP00000380516.3:p.Arg35Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.256C>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

8-28827640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827640
    reference: chr 8
allele count: 4
allele frequency: 3.298425002061515e-5
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.104G>A
  hgvsp: ENSP00000430110.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.430G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.104G>A
  hgvsp: ENSP00000287701.10:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.104G>A
  hgvsp: ENSP00000380516.3:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.104G>A
  hgvsp: ENSP00000430238.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.104G>A
  hgvsp: ENSP00000453211.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.104G>A
  hgvsp: ENSP00000429767.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.104G>A
  hgvsp: ENSP00000384261.2:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.104G>A
  hgvsp: ENSP00000401769.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.104G>A
  hgvsp: ENSP00000430059.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.104G>A
  hgvsp: ENSP00000453185.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.257G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.104G>A
  hgvsp: ENSP00000475196.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.104G>A
  hgvsp: ENSP00000452827.1:p.Arg35His
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg35His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

8-28827640-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827640
    reference: chr 8
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.104G>T
  hgvsp: ENSP00000430238.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.104G>T
  hgvsp: ENSP00000430110.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.104G>T
  hgvsp: ENSP00000429767.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.104G>T
  hgvsp: ENSP00000475196.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.257G>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.104G>T
  hgvsp: ENSP00000453185.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.104G>T
  hgvsp: ENSP00000453211.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.104G>T
  hgvsp: ENSP00000287701.10:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.104G>T
  hgvsp: ENSP00000452827.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.104G>T
  hgvsp: ENSP00000401769.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.104G>T
  hgvsp: ENSP00000384261.2:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.430G>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.104G>T
  hgvsp: ENSP00000430059.1:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.104G>T
  hgvsp: ENSP00000380516.3:p.Arg35Leu
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35Leu
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-28827651-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827651
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827651
    reference: chr 8
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.115A>G
  hgvsp: ENSP00000380516.3:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.115A>G
  hgvsp: ENSP00000287701.10:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.115A>G
  hgvsp: ENSP00000453211.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.115A>G
  hgvsp: ENSP00000401769.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.115A>G
  hgvsp: ENSP00000453185.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.115A>G
  hgvsp: ENSP00000430238.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.115A>G
  hgvsp: ENSP00000430110.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.115A>G
  hgvsp: ENSP00000430059.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.115A>G
  hgvsp: ENSP00000452827.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.115A>G
  hgvsp: ENSP00000429767.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.115A>G
  hgvsp: ENSP00000384261.2:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.268A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.115A>G
  hgvsp: ENSP00000475196.1:p.Thr39Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.441A>G
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr39Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/8-28827652-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827652
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827652
    reference: chr 8
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.116C>A
  hgvsp: ENSP00000475196.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.116C>A
  hgvsp: ENSP00000453211.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.116C>A
  hgvsp: ENSP00000430110.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.116C>A
  hgvsp: ENSP00000380516.3:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.116C>A
  hgvsp: ENSP00000430238.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.116C>A
  hgvsp: ENSP00000429767.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.116C>A
  hgvsp: ENSP00000401769.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.269C>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.116C>A
  hgvsp: ENSP00000430059.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.116C>A
  hgvsp: ENSP00000287701.10:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.116C>A
  hgvsp: ENSP00000452827.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.116C>A
  hgvsp: ENSP00000453185.1:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.442C>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.116C>A
  hgvsp: ENSP00000384261.2:p.Thr39Asn
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr39Asn
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

8-28827654-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827654
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827654
    reference: chr 8
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.118A>G
  hgvsp: ENSP00000453185.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.118A>G
  hgvsp: ENSP00000430110.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.118A>G
  hgvsp: ENSP00000380516.3:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.271A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.118A>G
  hgvsp: ENSP00000452827.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.118A>G
  hgvsp: ENSP00000453211.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.118A>G
  hgvsp: ENSP00000475196.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.118A>G
  hgvsp: ENSP00000287701.10:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.444A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.118A>G
  hgvsp: ENSP00000429767.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.118A>G
  hgvsp: ENSP00000430238.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.118A>G
  hgvsp: ENSP00000401769.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.118A>G
  hgvsp: ENSP00000384261.2:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.118A>G
  hgvsp: ENSP00000430059.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys40Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-28827670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827670
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827670
    reference: chr 8
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.134A>G
  hgvsp: ENSP00000453185.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.134A>G
  hgvsp: ENSP00000475196.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.134A>G
  hgvsp: ENSP00000430238.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.134A>G
  hgvsp: ENSP00000430110.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.134A>G
  hgvsp: ENSP00000452827.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.460A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.134A>G
  hgvsp: ENSP00000430059.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.287A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.134A>G
  hgvsp: ENSP00000287701.10:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.134A>G
  hgvsp: ENSP00000384261.2:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.134A>G
  hgvsp: ENSP00000401769.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.134A>G
  hgvsp: ENSP00000380516.3:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.134A>G
  hgvsp: ENSP00000429767.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.134A>G
  hgvsp: ENSP00000453211.1:p.His45Arg
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His45Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-28827671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827671
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827671
    reference: chr 8
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.135T>C
  hgvsp: ENST00000519662.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.135T>C
  hgvsp: ENST00000558662.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.135T>C
  hgvsp: ENST00000287701.10:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.135T>C
  hgvsp: ENST00000560599.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.135T>C
  hgvsp: ENST00000444075.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.135T>C
  hgvsp: ENST00000521516.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.135T>C
  hgvsp: ENST00000403668.2:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.135T>C
  hgvsp: ENST00000524238.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.461T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.135T>C
  hgvsp: ENST00000519047.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.288T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.135T>C
  hgvsp: ENST00000523613.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.135T>C
  hgvsp: ENST00000355231.5:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.135T>C
  hgvsp: ENST00000397358.3:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His45His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

8-28827671-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827671
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827671
    reference: chr 8
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.135T>G
  hgvsp: ENSP00000430110.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.135T>G
  hgvsp: ENSP00000287701.10:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.135T>G
  hgvsp: ENSP00000429767.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.135T>G
  hgvsp: ENSP00000452827.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.135T>G
  hgvsp: ENSP00000380516.3:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.135T>G
  hgvsp: ENSP00000384261.2:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.135T>G
  hgvsp: ENSP00000401769.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.135T>G
  hgvsp: ENSP00000453185.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.461T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.288T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.135T>G
  hgvsp: ENSP00000430238.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.135T>G
  hgvsp: ENSP00000475196.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.135T>G
  hgvsp: ENSP00000430059.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.135T>G
  hgvsp: ENSP00000453211.1:p.His45Gln
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His45Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-28827674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827674
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827674
    reference: chr 8
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.138C>T
  hgvsp: ENST00000287701.10:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.138C>T
  hgvsp: ENST00000403668.2:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.138C>T
  hgvsp: ENST00000519662.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.138C>T
  hgvsp: ENST00000558662.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.138C>T
  hgvsp: ENST00000519047.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.138C>T
  hgvsp: ENST00000444075.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.138C>T
  hgvsp: ENST00000521516.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.138C>T
  hgvsp: ENST00000524238.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.138C>T
  hgvsp: ENST00000397358.3:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.138C>T
  hgvsp: ENST00000560599.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.138C>T
  hgvsp: ENST00000523613.1:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.291C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.464C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.138C>T
  hgvsp: ENST00000355231.5:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala46Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

8-28827677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827677
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827677
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.141G>A
  hgvsp: ENST00000444075.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.141G>A
  hgvsp: ENST00000521516.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.141G>A
  hgvsp: ENST00000287701.10:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.467G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.141G>A
  hgvsp: ENST00000355231.5:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.141G>A
  hgvsp: ENST00000523613.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.141G>A
  hgvsp: ENST00000519662.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.141G>A
  hgvsp: ENST00000524238.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.141G>A
  hgvsp: ENST00000403668.2:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.141G>A
  hgvsp: ENST00000519047.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.141G>A
  hgvsp: ENST00000560599.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.141G>A
  hgvsp: ENST00000397358.3:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.141G>A
  hgvsp: ENST00000558662.1:c.141G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.294G>A
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu47Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

8-28827689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827689
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827689
    reference: chr 8
allele count: 97
allele frequency: 7.99261712892009e-4
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.153C>T
  hgvsp: ENST00000403668.2:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.153C>T
  hgvsp: ENST00000523613.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.153C>T
  hgvsp: ENST00000558662.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.153C>T
  hgvsp: ENST00000521516.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.153C>T
  hgvsp: ENST00000519662.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.153C>T
  hgvsp: ENST00000397358.3:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.153C>T
  hgvsp: ENST00000524238.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.153C>T
  hgvsp: ENST00000287701.10:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.153C>T
  hgvsp: ENST00000519047.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.479C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.153C>T
  hgvsp: ENST00000444075.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.153C>T
  hgvsp: ENST00000355231.5:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.153C>T
  hgvsp: ENST00000560599.1:c.153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.306C>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp51Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

8-28827691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827691
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827691
    reference: chr 8
allele count: 5
allele frequency: 4.119769952045878e-5
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.155G>A
  hgvsp: ENSP00000452827.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.155G>A
  hgvsp: ENSP00000453185.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.155G>A
  hgvsp: ENSP00000384261.2:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.155G>A
  hgvsp: ENSP00000380516.3:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.155G>A
  hgvsp: ENSP00000430238.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.155G>A
  hgvsp: ENSP00000430059.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.481G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.155G>A
  hgvsp: ENSP00000287701.10:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.155G>A
  hgvsp: ENSP00000429767.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.155G>A
  hgvsp: ENSP00000401769.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.155G>A
  hgvsp: ENSP00000430110.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.155G>A
  hgvsp: ENSP00000453211.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.155G>A
  hgvsp: ENSP00000475196.1:p.Arg52His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.308G>A
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg52His
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

8-28827718-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827718
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827718
    reference: chr 8
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.182T>G
  hgvsp: ENSP00000429767.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.182T>G
  hgvsp: ENSP00000430059.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.182T>G
  hgvsp: ENSP00000380516.3:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.182T>G
  hgvsp: ENSP00000287701.10:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.182T>G
  hgvsp: ENSP00000430110.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.182T>G
  hgvsp: ENSP00000475196.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.182T>G
  hgvsp: ENSP00000401769.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.508T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.182T>G
  hgvsp: ENSP00000453185.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.182T>G
  hgvsp: ENSP00000384261.2:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.335T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.182T>G
  hgvsp: ENSP00000453211.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.182T>G
  hgvsp: ENSP00000430238.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.182T>G
  hgvsp: ENSP00000452827.1:p.Phe61Cys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe61Cys
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

8-28827722-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827722
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827722
    reference: chr 8
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.186A>G
  hgvsp: ENST00000444075.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.186A>G
  hgvsp: ENST00000397358.3:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.186A>G
  hgvsp: ENST00000355231.5:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.186A>G
  hgvsp: ENST00000521516.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.186A>G
  hgvsp: ENST00000558662.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.186A>G
  hgvsp: ENST00000524238.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.186A>G
  hgvsp: ENST00000560599.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.512A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.186A>G
  hgvsp: ENST00000287701.10:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.186A>G
  hgvsp: ENST00000403668.2:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.339A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.186A>G
  hgvsp: ENST00000519662.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.186A>G
  hgvsp: ENST00000519047.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.186A>G
  hgvsp: ENST00000523613.1:c.186A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly62Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

8-28827724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827724
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827724
    reference: chr 8
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.188G>A
  hgvsp: ENSP00000475196.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.188G>A
  hgvsp: ENSP00000380516.3:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.188G>A
  hgvsp: ENSP00000429767.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.188G>A
  hgvsp: ENSP00000453185.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.188G>A
  hgvsp: ENSP00000384261.2:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.188G>A
  hgvsp: ENSP00000430110.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.341G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.188G>A
  hgvsp: ENSP00000430238.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.188G>A
  hgvsp: ENSP00000401769.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.188G>A
  hgvsp: ENSP00000287701.10:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.188G>A
  hgvsp: ENSP00000430059.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.514G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.188G>A
  hgvsp: ENSP00000452827.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.188G>A
  hgvsp: ENSP00000453211.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg63Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

8-28827732-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827732
    reference: chr 8
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.196A>G
  hgvsp: ENSP00000380516.3:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.196A>G
  hgvsp: ENSP00000475196.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.196A>G
  hgvsp: ENSP00000430238.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.196A>G
  hgvsp: ENSP00000429767.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.196A>G
  hgvsp: ENSP00000430110.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.196A>G
  hgvsp: ENSP00000401769.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.196A>G
  hgvsp: ENSP00000384261.2:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.349A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.196A>G
  hgvsp: ENSP00000430059.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.522A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.196A>G
  hgvsp: ENSP00000287701.10:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.196A>G
  hgvsp: ENSP00000453211.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.196A>G
  hgvsp: ENSP00000453185.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.196A>G
  hgvsp: ENSP00000452827.1:p.Ser66Gly
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser66Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

8-28827744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827744
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827744
    reference: chr 8
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.208A>G
  hgvsp: ENSP00000453211.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.208A>G
  hgvsp: ENSP00000429767.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.208A>G
  hgvsp: ENSP00000287701.10:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.534A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.208A>G
  hgvsp: ENSP00000401769.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.208A>G
  hgvsp: ENSP00000430238.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.208A>G
  hgvsp: ENSP00000380516.3:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.208A>G
  hgvsp: ENSP00000475196.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.208A>G
  hgvsp: ENSP00000384261.2:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.361A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.208A>G
  hgvsp: ENSP00000453185.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.208A>G
  hgvsp: ENSP00000430059.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.208A>G
  hgvsp: ENSP00000430110.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.208A>G
  hgvsp: ENSP00000452827.1:p.Ser70Gly
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser70Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

8-28827758-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827758
    reference: chr 8
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.222T>A
  hgvsp: ENSP00000401769.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.222T>A
  hgvsp: ENSP00000453185.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.548T>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.222T>A
  hgvsp: ENSP00000452827.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.375T>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.222T>A
  hgvsp: ENSP00000430059.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.222T>A
  hgvsp: ENSP00000384261.2:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.222T>A
  hgvsp: ENSP00000287701.10:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.222T>A
  hgvsp: ENSP00000453211.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.222T>A
  hgvsp: ENSP00000429767.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.222T>A
  hgvsp: ENSP00000430110.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.222T>A
  hgvsp: ENSP00000380516.3:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.222T>A
  hgvsp: ENSP00000475196.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.222T>A
  hgvsp: ENSP00000430238.1:p.Asn74Lys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn74Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

8-28827758-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827758
    reference: chr 8
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.375T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.222T>C
  hgvsp: ENST00000558662.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.222T>C
  hgvsp: ENST00000560599.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.222T>C
  hgvsp: ENST00000287701.10:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.222T>C
  hgvsp: ENST00000523613.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.548T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.222T>C
  hgvsp: ENST00000397358.3:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.222T>C
  hgvsp: ENST00000355231.5:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.222T>C
  hgvsp: ENST00000521516.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.222T>C
  hgvsp: ENST00000403668.2:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.222T>C
  hgvsp: ENST00000444075.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.222T>C
  hgvsp: ENST00000519662.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.222T>C
  hgvsp: ENST00000519047.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.222T>C
  hgvsp: ENST00000524238.1:c.222T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn74Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

8-28827759-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827759
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827759
    reference: chr 8
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.223A>G
  hgvsp: ENSP00000384261.2:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.223A>G
  hgvsp: ENSP00000430238.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.223A>G
  hgvsp: ENSP00000430110.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.223A>G
  hgvsp: ENSP00000453211.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.223A>G
  hgvsp: ENSP00000287701.10:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.223A>G
  hgvsp: ENSP00000401769.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.549A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.223A>G
  hgvsp: ENSP00000380516.3:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.223A>G
  hgvsp: ENSP00000429767.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.223A>G
  hgvsp: ENSP00000453185.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.223A>G
  hgvsp: ENSP00000452827.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.223A>G
  hgvsp: ENSP00000430059.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.376A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.223A>G
  hgvsp: ENSP00000475196.1:p.Ser75Gly
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6250
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser75Gly
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

8-28827763-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827763
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827763
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.227C>T
  hgvsp: ENSP00000287701.10:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.553C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.227C>T
  hgvsp: ENSP00000429767.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.227C>T
  hgvsp: ENSP00000453211.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.227C>T
  hgvsp: ENSP00000430238.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.227C>T
  hgvsp: ENSP00000453185.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.227C>T
  hgvsp: ENSP00000384261.2:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.227C>T
  hgvsp: ENSP00000475196.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.227C>T
  hgvsp: ENSP00000452827.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.227C>T
  hgvsp: ENSP00000380516.3:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.227C>T
  hgvsp: ENSP00000430110.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.380C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.227C>T
  hgvsp: ENSP00000430059.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.227C>T
  hgvsp: ENSP00000401769.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr76Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

8-28827766-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827766
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827766
    reference: chr 8
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.230A>G
  hgvsp: ENSP00000401769.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.230A>G
  hgvsp: ENSP00000430238.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.230A>G
  hgvsp: ENSP00000429767.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.230A>G
  hgvsp: ENSP00000453185.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.230A>G
  hgvsp: ENSP00000287701.10:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.230A>G
  hgvsp: ENSP00000430110.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.230A>G
  hgvsp: ENSP00000384261.2:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.230A>G
  hgvsp: ENSP00000452827.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.230A>G
  hgvsp: ENSP00000453211.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.556A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.383A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.230A>G
  hgvsp: ENSP00000380516.3:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.230A>G
  hgvsp: ENSP00000430059.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.230A>G
  hgvsp: ENSP00000475196.1:p.Asn77Ser
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn77Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

8-28827784-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827784
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827784
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.248C>T
  hgvsp: ENSP00000401769.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.248C>T
  hgvsp: ENSP00000429767.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.248C>T
  hgvsp: ENSP00000380516.3:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.248C>T
  hgvsp: ENSP00000430110.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.248C>T
  hgvsp: ENSP00000430238.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.248C>T
  hgvsp: ENSP00000453185.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.401C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.248C>T
  hgvsp: ENSP00000287701.10:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.248C>T
  hgvsp: ENSP00000452827.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.574C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.248C>T
  hgvsp: ENSP00000430059.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.248C>T
  hgvsp: ENSP00000453211.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.248C>T
  hgvsp: ENSP00000384261.2:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.248C>T
  hgvsp: ENSP00000475196.1:p.Ser83Phe
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser83Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-28827797-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827797
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.261A>C
  hgvsp: ENST00000287701.10:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.261A>C
  hgvsp: ENST00000519662.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.261A>C
  hgvsp: ENST00000444075.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.261A>C
  hgvsp: ENST00000523613.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.261A>C
  hgvsp: ENST00000521516.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.261A>C
  hgvsp: ENST00000524238.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.261A>C
  hgvsp: ENST00000355231.5:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.261A>C
  hgvsp: ENST00000558662.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.261A>C
  hgvsp: ENST00000560599.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.261A>C
  hgvsp: ENST00000519047.1:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.261A>C
  hgvsp: ENST00000403668.2:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.414A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.261A>C
  hgvsp: ENST00000397358.3:c.261A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.587A>C
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr87Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-28827797-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827797
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827797
    reference: chr 8
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.261A>G
  hgvsp: ENST00000558662.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.261A>G
  hgvsp: ENST00000403668.2:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.261A>G
  hgvsp: ENST00000519047.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.414A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.261A>G
  hgvsp: ENST00000355231.5:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.587A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.261A>G
  hgvsp: ENST00000397358.3:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.261A>G
  hgvsp: ENST00000560599.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.261A>G
  hgvsp: ENST00000287701.10:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.261A>G
  hgvsp: ENST00000524238.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.261A>G
  hgvsp: ENST00000521516.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.261A>G
  hgvsp: ENST00000444075.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.261A>G
  hgvsp: ENST00000519662.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.261A>G
  hgvsp: ENST00000523613.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr87Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-28827806-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827806
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827806
    reference: chr 8
allele count: 11
allele frequency: 9.064987721062087e-5
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.270A>C
  hgvsp: ENST00000397358.3:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.270A>C
  hgvsp: ENST00000521516.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.270A>C
  hgvsp: ENST00000560599.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.270A>C
  hgvsp: ENST00000403668.2:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.270A>C
  hgvsp: ENST00000523613.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.270A>C
  hgvsp: ENST00000524238.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.270A>C
  hgvsp: ENST00000444075.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.270A>C
  hgvsp: ENST00000558662.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.423A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.270A>C
  hgvsp: ENST00000287701.10:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.270A>C
  hgvsp: ENST00000519662.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.270A>C
  hgvsp: ENST00000355231.5:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.596A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.270A>C
  hgvsp: ENST00000519047.1:c.270A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr90Thr
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: A
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-28827812-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827812
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827812
    reference: chr 8
allele count: 3
allele frequency: 2.472269378471478e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.276G>A
  hgvsp: ENST00000355231.5:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.276G>A
  hgvsp: ENST00000558662.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.276G>A
  hgvsp: ENST00000521516.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.276G>A
  hgvsp: ENST00000403668.2:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.276G>A
  hgvsp: ENST00000444075.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.276G>A
  hgvsp: ENST00000287701.10:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.429G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.276G>A
  hgvsp: ENST00000524238.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.602G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.276G>A
  hgvsp: ENST00000519662.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.276G>A
  hgvsp: ENST00000523613.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.276G>A
  hgvsp: ENST00000560599.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.276G>A
  hgvsp: ENST00000519047.1:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.276G>A
  hgvsp: ENST00000397358.3:c.276G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr92Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

8-28827820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827820
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827820
    reference: chr 8
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.284C>T
  hgvsp: ENSP00000429767.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.284C>T
  hgvsp: ENSP00000380516.3:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.284C>T
  hgvsp: ENSP00000453211.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.284C>T
  hgvsp: ENSP00000453185.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.284C>T
  hgvsp: ENSP00000430238.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.284C>T
  hgvsp: ENSP00000287701.10:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.284C>T
  hgvsp: ENSP00000384261.2:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.610C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.284C>T
  hgvsp: ENSP00000430059.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.284C>T
  hgvsp: ENSP00000452827.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.284C>T
  hgvsp: ENSP00000475196.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.284C>T
  hgvsp: ENSP00000430110.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.284C>T
  hgvsp: ENSP00000401769.1:p.Ser95Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.437C>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser95Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

8-28827821-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827821
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827821
    reference: chr 8
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.285G>A
  hgvsp: ENST00000560599.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.285G>A
  hgvsp: ENST00000523613.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.285G>A
  hgvsp: ENST00000444075.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.285G>A
  hgvsp: ENST00000397358.3:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.285G>A
  hgvsp: ENST00000519662.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.285G>A
  hgvsp: ENST00000403668.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.285G>A
  hgvsp: ENST00000519047.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.285G>A
  hgvsp: ENST00000287701.10:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.285G>A
  hgvsp: ENST00000355231.5:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.285G>A
  hgvsp: ENST00000558662.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.611G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.285G>A
  hgvsp: ENST00000524238.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.438G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.285G>A
  hgvsp: ENST00000521516.1:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser95Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-28827828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827828
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827828
    reference: chr 8
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.292T>C
  hgvsp: ENSP00000380516.3:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.292T>C
  hgvsp: ENSP00000401769.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.292T>C
  hgvsp: ENSP00000453185.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.292T>C
  hgvsp: ENSP00000453211.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.292T>C
  hgvsp: ENSP00000384261.2:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.445T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.292T>C
  hgvsp: ENSP00000287701.10:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.618T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.292T>C
  hgvsp: ENSP00000430238.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.292T>C
  hgvsp: ENSP00000475196.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.292T>C
  hgvsp: ENSP00000452827.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.292T>C
  hgvsp: ENSP00000430110.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.292T>C
  hgvsp: ENSP00000430059.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.292T>C
  hgvsp: ENSP00000429767.1:p.Ser98Pro
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10277
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser98Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

8-28827832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827832
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827832
    reference: chr 8
allele count: 3
allele frequency: 2.473125370968806e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.296C>T
  hgvsp: ENSP00000430238.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.296C>T
  hgvsp: ENSP00000384261.2:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.449C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.622C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.296C>T
  hgvsp: ENSP00000401769.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.296C>T
  hgvsp: ENSP00000380516.3:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.296C>T
  hgvsp: ENSP00000287701.10:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.296C>T
  hgvsp: ENSP00000430059.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.296C>T
  hgvsp: ENSP00000429767.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.296C>T
  hgvsp: ENSP00000453185.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.296C>T
  hgvsp: ENSP00000475196.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.296C>T
  hgvsp: ENSP00000453211.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.296C>T
  hgvsp: ENSP00000452827.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.296C>T
  hgvsp: ENSP00000430110.1:p.Pro99Leu
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro99Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

8-28827833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827833
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827833
    reference: chr 8
allele count: 4
allele frequency: 3.297228679295053e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.297G>A
  hgvsp: ENST00000519662.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.297G>A
  hgvsp: ENST00000403668.2:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.297G>A
  hgvsp: ENST00000287701.10:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.297G>A
  hgvsp: ENST00000444075.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.297G>A
  hgvsp: ENST00000558662.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.297G>A
  hgvsp: ENST00000397358.3:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.450G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.297G>A
  hgvsp: ENST00000355231.5:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.297G>A
  hgvsp: ENST00000521516.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.297G>A
  hgvsp: ENST00000519047.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.297G>A
  hgvsp: ENST00000560599.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.297G>A
  hgvsp: ENST00000523613.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.297G>A
  hgvsp: ENST00000524238.1:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.623G>A
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro99Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

8-28827851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827851
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827851
    reference: chr 8
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.315T>C
  hgvsp: ENST00000519662.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.315T>C
  hgvsp: ENST00000524238.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.468T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.315T>C
  hgvsp: ENST00000523613.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.315T>C
  hgvsp: ENST00000397358.3:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.315T>C
  hgvsp: ENST00000403668.2:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.315T>C
  hgvsp: ENST00000287701.10:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.315T>C
  hgvsp: ENST00000558662.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.315T>C
  hgvsp: ENST00000521516.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.641T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.315T>C
  hgvsp: ENST00000560599.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.315T>C
  hgvsp: ENST00000519047.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.315T>C
  hgvsp: ENST00000444075.1:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.315T>C
  hgvsp: ENST00000355231.5:c.315T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14473
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr105Tyr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-28827859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827859
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827859
    reference: chr 8
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.323C>T
  hgvsp: ENSP00000453185.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.323C>T
  hgvsp: ENSP00000287701.10:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.323C>T
  hgvsp: ENSP00000384261.2:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.323C>T
  hgvsp: ENSP00000430238.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.323C>T
  hgvsp: ENSP00000430110.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.323C>T
  hgvsp: ENSP00000452827.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.323C>T
  hgvsp: ENSP00000401769.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.323C>T
  hgvsp: ENSP00000430059.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.323C>T
  hgvsp: ENSP00000429767.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.323C>T
  hgvsp: ENSP00000453211.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.476C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.649C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.323C>T
  hgvsp: ENSP00000475196.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.323C>T
  hgvsp: ENSP00000380516.3:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser108Phe
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

8-28827860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827860
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827860
    reference: chr 8
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.324C>T
  hgvsp: ENST00000519662.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.324C>T
  hgvsp: ENST00000287701.10:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.324C>T
  hgvsp: ENST00000397358.3:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.650C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.324C>T
  hgvsp: ENST00000403668.2:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.324C>T
  hgvsp: ENST00000444075.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.324C>T
  hgvsp: ENST00000560599.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.324C>T
  hgvsp: ENST00000521516.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.324C>T
  hgvsp: ENST00000524238.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.324C>T
  hgvsp: ENST00000523613.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.477C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.324C>T
  hgvsp: ENST00000519047.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.324C>T
  hgvsp: ENST00000558662.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.324C>T
  hgvsp: ENST00000355231.5:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser108Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

8-28827867-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827867
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827867
    reference: chr 8
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.331C>G
  hgvsp: ENSP00000401769.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.331C>G
  hgvsp: ENSP00000475196.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.331C>G
  hgvsp: ENSP00000430110.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.331C>G
  hgvsp: ENSP00000430238.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.331C>G
  hgvsp: ENSP00000453185.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.484C>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.331C>G
  hgvsp: ENSP00000287701.10:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.331C>G
  hgvsp: ENSP00000384261.2:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.331C>G
  hgvsp: ENSP00000452827.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.331C>G
  hgvsp: ENSP00000429767.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.331C>G
  hgvsp: ENSP00000380516.3:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.657C>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.331C>G
  hgvsp: ENSP00000453211.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.331C>G
  hgvsp: ENSP00000430059.1:p.Pro111Ala
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro111Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

8-28827874-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827874
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827874
    reference: chr 8
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.338C>G
  hgvsp: ENSP00000452827.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.338C>G
  hgvsp: ENSP00000475196.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.338C>G
  hgvsp: ENSP00000287701.10:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.338C>G
  hgvsp: ENSP00000453185.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.338C>G
  hgvsp: ENSP00000429767.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.338C>G
  hgvsp: ENSP00000430059.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.338C>G
  hgvsp: ENSP00000401769.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.338C>G
  hgvsp: ENSP00000384261.2:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.338C>G
  hgvsp: ENSP00000453211.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.338C>G
  hgvsp: ENSP00000430238.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.664C>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.338C>G
  hgvsp: ENSP00000430110.1:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.491C>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.338C>G
  hgvsp: ENSP00000380516.3:p.Thr113Ser
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr113Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

8-28827877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827877
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827877
    reference: chr 8
allele count: 8
allele frequency: 6.593913817546405e-5
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.341C>G
  hgvsp: ENSP00000475196.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.341C>G
  hgvsp: ENSP00000384261.2:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.341C>G
  hgvsp: ENSP00000401769.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.341C>G
  hgvsp: ENSP00000430059.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.341C>G
  hgvsp: ENSP00000429767.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.341C>G
  hgvsp: ENSP00000453211.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.341C>G
  hgvsp: ENSP00000452827.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.341C>G
  hgvsp: ENSP00000453185.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.341C>G
  hgvsp: ENSP00000287701.10:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.341C>G
  hgvsp: ENSP00000430238.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.667C>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.341C>G
  hgvsp: ENSP00000380516.3:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.494C>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.341C>G
  hgvsp: ENSP00000430110.1:p.Thr114Ser
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr114Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-28827877-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827877
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827877
    reference: chr 8
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.341C>A
  hgvsp: ENSP00000430110.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.667C>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.341C>A
  hgvsp: ENSP00000430059.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.341C>A
  hgvsp: ENSP00000380516.3:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.341C>A
  hgvsp: ENSP00000430238.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.341C>A
  hgvsp: ENSP00000287701.10:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.341C>A
  hgvsp: ENSP00000453185.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.341C>A
  hgvsp: ENSP00000429767.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.341C>A
  hgvsp: ENSP00000401769.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.494C>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.341C>A
  hgvsp: ENSP00000453211.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.341C>A
  hgvsp: ENSP00000475196.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.341C>A
  hgvsp: ENSP00000384261.2:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.341C>A
  hgvsp: ENSP00000452827.1:p.Thr114Asn
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr114Asn
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

8-28827890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827890
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827890
    reference: chr 8
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.354G>A
  hgvsp: ENST00000355231.5:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.354G>A
  hgvsp: ENST00000523613.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.680G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.354G>A
  hgvsp: ENST00000444075.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.354G>A
  hgvsp: ENST00000403668.2:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000429767
  ensembl transcript: ENST00000519662
  gene symbol: HMBOX1
  hgvsc: ENST00000519662.1:c.354G>A
  hgvsp: ENST00000519662.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.354G>A
  hgvsp: ENST00000287701.10:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.354G>A
  hgvsp: ENST00000524238.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.354G>A
  hgvsp: ENST00000519047.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.354G>A
  hgvsp: ENST00000521516.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.354G>A
  hgvsp: ENST00000560599.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.354G>A
  hgvsp: ENST00000397358.3:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.507G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.354G>A
  hgvsp: ENST00000558662.1:c.354G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6333
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly118Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

8-28827892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827892
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827892
    reference: chr 8
allele count: 2
allele frequency: 1.648451280022419e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.356G>A
  hgvsp: ENSP00000287701.10:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.356G>A
  hgvsp: ENSP00000401769.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.356G>A
  hgvsp: ENSP00000452827.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.356G>A
  hgvsp: ENSP00000453211.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.682G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.356G>A
  hgvsp: ENSP00000453185.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.356G>A
  hgvsp: ENSP00000380516.3:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.356G>A
  hgvsp: ENSP00000430238.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.356G>A
  hgvsp: ENSP00000384261.2:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.356G>A
  hgvsp: ENSP00000475196.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.509G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.356G>A
  hgvsp: ENSP00000430059.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.356G>A
  hgvsp: ENSP00000430110.1:p.Arg119Lys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg119Lys
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

8-28827904-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827904
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827904
    reference: chr 8
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.694A>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.368A>T
  hgvsp: ENSP00000453185.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.368A>T
  hgvsp: ENSP00000452827.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.368A>T
  hgvsp: ENSP00000287701.10:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.368A>T
  hgvsp: ENSP00000380516.3:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.368A>T
  hgvsp: ENSP00000384261.2:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.368A>T
  hgvsp: ENSP00000430059.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.368A>T
  hgvsp: ENSP00000401769.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.368A>T
  hgvsp: ENSP00000430110.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.368A>T
  hgvsp: ENSP00000453211.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.368A>T
  hgvsp: ENSP00000430238.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.368A>T
  hgvsp: ENSP00000475196.1:p.Glu123Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.521A>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu123Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

8-28827907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827907
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827907
    reference: chr 8
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.371G>A
  hgvsp: ENSP00000380516.3:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.371G>A
  hgvsp: ENSP00000453211.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.371G>A
  hgvsp: ENSP00000430238.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.371G>A
  hgvsp: ENSP00000287701.10:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.371G>A
  hgvsp: ENSP00000453185.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.697G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.371G>A
  hgvsp: ENSP00000452827.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.371G>A
  hgvsp: ENSP00000430110.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.371G>A
  hgvsp: ENSP00000384261.2:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.371G>A
  hgvsp: ENSP00000401769.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.524G>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.371G>A
  hgvsp: ENSP00000475196.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.371G>A
  hgvsp: ENSP00000430059.1:p.Arg124Gln
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg124Gln
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-28827919-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827919
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827919
    reference: chr 8
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.383C>A
  hgvsp: ENSP00000380516.3:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.383C>A
  hgvsp: ENSP00000453185.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.709C>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.383C>A
  hgvsp: ENSP00000430059.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.383C>A
  hgvsp: ENSP00000452827.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.383C>A
  hgvsp: ENSP00000430238.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.383C>A
  hgvsp: ENSP00000384261.2:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.383C>A
  hgvsp: ENSP00000430110.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.536C>A
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.383C>A
  hgvsp: ENSP00000453211.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.383C>A
  hgvsp: ENSP00000401769.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.383C>A
  hgvsp: ENSP00000287701.10:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.383C>A
  hgvsp: ENSP00000475196.1:p.Ser128Tyr
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser128Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/8-28827921-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827921
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827921
    reference: chr 8
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.385A>C
  hgvsp: ENSP00000430238.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.385A>C
  hgvsp: ENSP00000380516.3:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.385A>C
  hgvsp: ENSP00000453185.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.385A>C
  hgvsp: ENSP00000453211.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.385A>C
  hgvsp: ENSP00000287701.10:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.711A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.385A>C
  hgvsp: ENSP00000430110.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.385A>C
  hgvsp: ENSP00000401769.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.385A>C
  hgvsp: ENSP00000430059.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.385A>C
  hgvsp: ENSP00000384261.2:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.538A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.385A>C
  hgvsp: ENSP00000475196.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.385A>C
  hgvsp: ENSP00000452827.1:p.Asn129His
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn129His
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP

8-28827921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827921
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827921
    reference: chr 8
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.385A>G
  hgvsp: ENSP00000475196.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.385A>G
  hgvsp: ENSP00000452827.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.385A>G
  hgvsp: ENSP00000430059.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.385A>G
  hgvsp: ENSP00000384261.2:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.385A>G
  hgvsp: ENSP00000430238.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.385A>G
  hgvsp: ENSP00000287701.10:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.385A>G
  hgvsp: ENSP00000380516.3:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.385A>G
  hgvsp: ENSP00000453185.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.385A>G
  hgvsp: ENSP00000453211.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.538A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.711A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.385A>G
  hgvsp: ENSP00000430110.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.385A>G
  hgvsp: ENSP00000401769.1:p.Asn129Asp
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn129Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

8-28827931-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827931
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827931
    reference: chr 8
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.395T>C
  hgvsp: ENSP00000380516.3:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.395T>C
  hgvsp: ENSP00000430110.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.721T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.395T>C
  hgvsp: ENSP00000287701.10:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.395T>C
  hgvsp: ENSP00000453185.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.395T>C
  hgvsp: ENSP00000430059.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.395T>C
  hgvsp: ENSP00000475196.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.395T>C
  hgvsp: ENSP00000384261.2:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.395T>C
  hgvsp: ENSP00000430238.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.395T>C
  hgvsp: ENSP00000401769.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.395T>C
  hgvsp: ENSP00000453211.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.395T>C
  hgvsp: ENSP00000452827.1:p.Met132Thr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.548T>C
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met132Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

8-28827938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827938
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827938
    reference: chr 8
allele count: 1
allele frequency: 8.252323028932645e-6
allele num: 121178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.728A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.402A>G
  hgvsp: ENST00000397358.3:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.402A>G
  hgvsp: ENST00000403668.2:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.402A>G
  hgvsp: ENST00000560599.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.402A>G
  hgvsp: ENST00000355231.5:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.402A>G
  hgvsp: ENST00000524238.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.402A>G
  hgvsp: ENST00000287701.10:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.402A>G
  hgvsp: ENST00000521516.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.402A>G
  hgvsp: ENST00000444075.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.402A>G
  hgvsp: ENST00000558662.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.555A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.402A>G
  hgvsp: ENST00000519047.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.402A>G
  hgvsp: ENST00000523613.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro134Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-28827939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827939
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827939
    reference: chr 8
allele count: 2
allele frequency: 1.650737054094653e-5
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.403A>G
  hgvsp: ENSP00000401769.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.403A>G
  hgvsp: ENSP00000453185.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.403A>G
  hgvsp: ENSP00000430059.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.403A>G
  hgvsp: ENSP00000384261.2:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.403A>G
  hgvsp: ENSP00000380516.3:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.403A>G
  hgvsp: ENSP00000287701.10:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.729A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.403A>G
  hgvsp: ENSP00000453211.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.403A>G
  hgvsp: ENSP00000452827.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.556A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.403A>G
  hgvsp: ENSP00000430238.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.403A>G
  hgvsp: ENSP00000475196.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.403A>G
  hgvsp: ENSP00000430110.1:p.Thr135Ala
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr135Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

8-28827942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827942
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827942
    reference: chr 8
allele count: 1
allele frequency: 8.25722920416825e-6
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.406C>T
  hgvsp: ENSP00000401769.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.406C>T
  hgvsp: ENSP00000384261.2:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.732C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.406C>T
  hgvsp: ENSP00000430238.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.559C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.406C>T
  hgvsp: ENSP00000453185.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.406C>T
  hgvsp: ENSP00000452827.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.406C>T
  hgvsp: ENSP00000453211.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.406C>T
  hgvsp: ENSP00000287701.10:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.406C>T
  hgvsp: ENSP00000380516.3:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.406C>T
  hgvsp: ENSP00000430110.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.406C>T
  hgvsp: ENSP00000475196.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.406C>T
  hgvsp: ENSP00000430059.1:p.Arg136Cys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg136Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

8-28827943-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827943
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827943
    reference: chr 8
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.407G>T
  hgvsp: ENSP00000380516.3:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.407G>T
  hgvsp: ENSP00000287701.10:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.407G>T
  hgvsp: ENSP00000453185.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.407G>T
  hgvsp: ENSP00000430238.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.407G>T
  hgvsp: ENSP00000452827.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.407G>T
  hgvsp: ENSP00000475196.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.407G>T
  hgvsp: ENSP00000430059.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.407G>T
  hgvsp: ENSP00000430110.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.407G>T
  hgvsp: ENSP00000453211.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.407G>T
  hgvsp: ENSP00000401769.1:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.407G>T
  hgvsp: ENSP00000384261.2:p.Arg136Leu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.560G>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.733G>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg136Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-28827946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827946
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827946
    reference: chr 8
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.410A>G
  hgvsp: ENSP00000287701.10:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.410A>G
  hgvsp: ENSP00000430110.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.410A>G
  hgvsp: ENSP00000475196.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.410A>G
  hgvsp: ENSP00000452827.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.736A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.410A>G
  hgvsp: ENSP00000453185.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.410A>G
  hgvsp: ENSP00000380516.3:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.410A>G
  hgvsp: ENSP00000384261.2:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.410A>G
  hgvsp: ENSP00000430238.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.410A>G
  hgvsp: ENSP00000401769.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.410A>G
  hgvsp: ENSP00000453211.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.563A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.410A>G
  hgvsp: ENSP00000430059.1:p.Tyr137Cys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18047
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr137Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

8-28827948-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827948
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827948
    reference: chr 8
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.412C>T
  hgvsp: ENSP00000380516.3:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.412C>T
  hgvsp: ENSP00000401769.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.565C>T
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.412C>T
  hgvsp: ENSP00000453185.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.412C>T
  hgvsp: ENSP00000452827.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.412C>T
  hgvsp: ENSP00000430238.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.412C>T
  hgvsp: ENSP00000287701.10:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.412C>T
  hgvsp: ENSP00000453211.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.412C>T
  hgvsp: ENSP00000384261.2:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.412C>T
  hgvsp: ENSP00000430110.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.412C>T
  hgvsp: ENSP00000430059.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.412C>T
  hgvsp: ENSP00000475196.1:p.His138Tyr
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.738C>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His138Tyr
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

8-28827950-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827950
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827950
    reference: chr 8
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.414T>C
  hgvsp: ENST00000560599.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.414T>C
  hgvsp: ENST00000403668.2:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.414T>C
  hgvsp: ENST00000287701.10:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.740T>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.414T>C
  hgvsp: ENST00000397358.3:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.414T>C
  hgvsp: ENST00000558662.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.414T>C
  hgvsp: ENST00000521516.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.414T>C
  hgvsp: ENST00000524238.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.414T>C
  hgvsp: ENST00000444075.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.414T>C
  hgvsp: ENST00000355231.5:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.414T>C
  hgvsp: ENST00000523613.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.414T>C
  hgvsp: ENST00000519047.1:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560269
  gene symbol: HMBOX1
  hgvsc: ENST00000560269.1:n.567T>C
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His138His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-28827953-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827953
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827953
    reference: chr 8
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.417A>C
  hgvsp: ENST00000287701.10:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.417A>C
  hgvsp: ENST00000403668.2:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.417A>C
  hgvsp: ENST00000523613.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.1A>C
  hgvsp: ENST00000518080.1:c.1A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.417A>C
  hgvsp: ENST00000519047.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.417A>C
  hgvsp: ENST00000558662.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.417A>C
  hgvsp: ENST00000524238.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.417A>C
  hgvsp: ENST00000397358.3:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.417A>C
  hgvsp: ENST00000521516.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.417A>C
  hgvsp: ENST00000355231.5:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.417A>C
  hgvsp: ENST00000560599.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.743A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.417A>C
  hgvsp: ENST00000444075.1:c.417A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala139Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

8-28827976-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827976
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827976
    reference: chr 8
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.440A>G
  hgvsp: ENSP00000401769.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.440A>G
  hgvsp: ENSP00000475196.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.440A>G
  hgvsp: ENSP00000430238.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.440A>G
  hgvsp: ENSP00000452827.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.440A>G
  hgvsp: ENSP00000430059.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.440A>G
  hgvsp: ENSP00000287701.10:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.766A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.440A>G
  hgvsp: ENSP00000430110.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.440A>G
  hgvsp: ENSP00000380516.3:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.440A>G
  hgvsp: ENSP00000384261.2:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.440A>G
  hgvsp: ENSP00000453185.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.24A>G
  hgvsp: ENSP00000430222.1:p.Tyr9Cys
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.440A>G
  hgvsp: ENSP00000453211.1:p.Tyr147Cys
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr147Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/8-28827978-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827978
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827978
    reference: chr 8
allele count: 1
allele frequency: 8.372264362619514e-6
allele num: 119442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.26A>C
  hgvsp: ENSP00000430222.1:p.Ser10Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.442A>C
  hgvsp: ENSP00000430059.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.442A>C
  hgvsp: ENSP00000453211.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.768A>C
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.442A>C
  hgvsp: ENSP00000475196.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.442A>C
  hgvsp: ENSP00000287701.10:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.442A>C
  hgvsp: ENSP00000380516.3:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.442A>C
  hgvsp: ENSP00000430110.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.442A>C
  hgvsp: ENSP00000384261.2:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.442A>C
  hgvsp: ENSP00000401769.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.442A>C
  hgvsp: ENSP00000452827.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.442A>C
  hgvsp: ENSP00000430238.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.442A>C
  hgvsp: ENSP00000453185.1:p.Ser148Arg
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10394
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser148Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

8-28827992-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827992
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827992
    reference: chr 8
allele count: 3
allele frequency: 2.550153009180551e-5
allele num: 117640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.456A>G
  hgvsp: ENST00000403668.2:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.40A>G
  hgvsp: ENST00000518080.1:c.40A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.456A>G
  hgvsp: ENST00000560599.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.456A>G
  hgvsp: ENST00000444075.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.456A>G
  hgvsp: ENST00000355231.5:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.456A>G
  hgvsp: ENST00000523613.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.456A>G
  hgvsp: ENST00000287701.10:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.456A>G
  hgvsp: ENST00000521516.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.456A>G
  hgvsp: ENST00000397358.3:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.782A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.456A>G
  hgvsp: ENST00000519047.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.456A>G
  hgvsp: ENST00000558662.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.456A>G
  hgvsp: ENST00000524238.1:c.456A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser152Ser
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-28827997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827997
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827997
    reference: chr 8
allele count: 2
allele frequency: 1.711303157354325e-5
allele num: 116870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.461A>G
  hgvsp: ENSP00000430059.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.461A>G
  hgvsp: ENSP00000453211.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.461A>G
  hgvsp: ENSP00000287701.10:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.787A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.461A>G
  hgvsp: ENSP00000430238.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.461A>G
  hgvsp: ENSP00000453185.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.45A>G
  hgvsp: ENSP00000430222.1:p.Glu16Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.461A>G
  hgvsp: ENSP00000401769.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.461A>G
  hgvsp: ENSP00000384261.2:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.461A>G
  hgvsp: ENSP00000452827.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.461A>G
  hgvsp: ENSP00000430110.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.461A>G
  hgvsp: ENSP00000475196.1:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.461A>G
  hgvsp: ENSP00000380516.3:p.Glu154Gly
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15056
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu154Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

8-28827997-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28827997
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28827997
    reference: chr 8
allele count: 1
allele frequency: 8.556515786771626e-6
allele num: 116870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.45A>T
  hgvsp: ENSP00000430222.1:p.Glu16Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.461A>T
  hgvsp: ENSP00000475196.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.461A>T
  hgvsp: ENSP00000430110.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.461A>T
  hgvsp: ENSP00000452827.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.461A>T
  hgvsp: ENSP00000287701.10:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.461A>T
  hgvsp: ENSP00000401769.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.461A>T
  hgvsp: ENSP00000384261.2:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.461A>T
  hgvsp: ENSP00000453185.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.461A>T
  hgvsp: ENSP00000380516.3:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.461A>T
  hgvsp: ENSP00000430238.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.461A>T
  hgvsp: ENSP00000453211.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.461A>T
  hgvsp: ENSP00000430059.1:p.Glu154Val
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.787A>T
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu154Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

8-28828013-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828013
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28828013
    reference: chr 8
allele count: 1
allele frequency: 8.731489242805253e-6
allele num: 114528
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.477T>G
  hgvsp: ENSP00000452827.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.477T>G
  hgvsp: ENSP00000384261.2:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.477T>G
  hgvsp: ENSP00000430110.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.477T>G
  hgvsp: ENSP00000287701.10:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.477T>G
  hgvsp: ENSP00000430238.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.477T>G
  hgvsp: ENSP00000401769.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.477T>G
  hgvsp: ENSP00000453185.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.477T>G
  hgvsp: ENSP00000380516.3:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.477T>G
  hgvsp: ENSP00000475196.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.61T>G
  hgvsp: ENSP00000430222.1:p.Asp21Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.477T>G
  hgvsp: ENSP00000453211.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.477T>G
  hgvsp: ENSP00000430059.1:p.Asp159Glu
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.803T>G
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp159Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

8-28828018-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828018
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28828018
    reference: chr 8
allele count: 4
allele frequency: 3.516421689288979e-5
allele num: 113752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453185
  ensembl transcript: ENST00000560599
  gene symbol: HMBOX1
  hgvsc: ENST00000560599.1:c.482A>G
  hgvsp: ENSP00000453185.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.808A>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000384261
  ensembl transcript: ENST00000403668
  gene symbol: HMBOX1
  hgvsc: ENST00000403668.2:c.482A>G
  hgvsp: ENSP00000384261.2:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.482A>G
  hgvsp: ENSP00000452827.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.482A>G
  hgvsp: ENSP00000287701.10:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.482A>G
  hgvsp: ENSP00000475196.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.482A>G
  hgvsp: ENSP00000430059.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.482A>G
  hgvsp: ENSP00000453211.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.482A>G
  hgvsp: ENSP00000430238.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.66A>G
  hgvsp: ENSP00000430222.1:p.Lys23Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.482A>G
  hgvsp: ENSP00000401769.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.482A>G
  hgvsp: ENSP00000380516.3:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.482A>G
  hgvsp: ENSP00000430110.1:p.Lys161Arg
  variant of: http://identifiers.org/hgnc/26137
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys161Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum

8-28828051-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28828051
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 28828051
    reference: chr 8
allele count: 1
allele frequency: 9.225773119787439e-6
allele num: 108392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000401769
  ensembl transcript: ENST00000444075
  gene symbol: HMBOX1
  hgvsc: ENST00000444075.1:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430238
  ensembl transcript: ENST00000521516
  gene symbol: HMBOX1
  hgvsc: ENST00000521516.1:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000452827
  ensembl transcript: ENST00000523613
  gene symbol: HMBOX1
  hgvsc: ENST00000523613.1:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000475196
  ensembl transcript: ENST00000355231
  gene symbol: HMBOX1
  hgvsc: ENST00000355231.5:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000380516
  ensembl transcript: ENST00000397358
  gene symbol: HMBOX1
  hgvsc: ENST00000397358.3:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000453211
  ensembl transcript: ENST00000558662
  gene symbol: HMBOX1
  hgvsc: ENST00000558662.1:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000287701
  ensembl transcript: ENST00000287701
  gene symbol: HMBOX1
  hgvsc: ENST00000287701.10:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000147421
  ensembl transcript: ENST00000560357
  gene symbol: HMBOX1
  hgvsc: ENST00000560357.1:n.841T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430110
  ensembl transcript: ENST00000524238
  gene symbol: HMBOX1
  hgvsc: ENST00000524238.1:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430222
  ensembl transcript: ENST00000518080
  gene symbol: HMBOX1
  hgvsc: ENST00000518080.1:c.84+15T>G
  variant of: http://identifiers.org/hgnc/26137
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000147421
  ensembl protein: ENSP00000430059
  ensembl transcript: ENST00000519047
  gene symbol: HMBOX1
  hgvsc: ENST00000519047.1:c.500+15T>G
  variant of: http://identifiers.org/hgnc/26137
canonical: false
consequence: non coding transcript exon
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 18902
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6250
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2662
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5124
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23862
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7626
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2250
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2765
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4257
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10469
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.911202e6

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.934e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
SIO_000300: 5.184e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

GenotypeDepth
all individuals: 2662
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6253
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10470
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2765
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23906
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5125
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.911681e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

VQSLOD
type: SiteQuality
SIO_000300: -6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.306e0

FS
type: SiteQuality
SIO_000300: 7.277e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeDepth
all individuals: 305
bin: 6.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 10228
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 452
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2662
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 157
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 764
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23943
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5124
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4087
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10472
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2249
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7618
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.912037e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.063e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.042e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeDepth
all individuals: 10226
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 765
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14400
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1356
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 208
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6254
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
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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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European (Finnish)
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South Asian
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East Asian
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African
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European (Non-Finnish)
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MQ
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FS
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DP
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QD
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MQRankSum
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InbreedingCoeff
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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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South Asian
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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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Latino
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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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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South Asian
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African
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European (Finnish)
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Other
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Latino
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East Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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VQSLOD
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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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Other
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African
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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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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Latino
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South Asian
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African
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European (Non-Finnish)
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East Asian
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QD
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ReadPosRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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African
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Latino
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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allele frequency: 2.997871511227029e-5
allele num: 66714
num of homozygotes: 0

Other
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

GenotypeQuality
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variant carriers: 0

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

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

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

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

Other
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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: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 2.0e-4

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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SIO_000300: 1.913404e6

MQ
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QD
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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-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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num of homozygotes: 0

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

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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European (Non-Finnish)
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African
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South Asian
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Other
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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European (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 (Non-Finnish)
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num of homozygotes: 0

Other
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Latino
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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QD
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MQ
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VQSLOD
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ClippingRankSum
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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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Other
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East Asian
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South Asian
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Latino
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European (Finnish)
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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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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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GenotypeDepth
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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 num: 10402
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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MQRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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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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MQ
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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FS
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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East Asian
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Other
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African
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InbreedingCoeff
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MQ
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FS
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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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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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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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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QD
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MQ
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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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European (Non-Finnish)
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South Asian
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African
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East Asian
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeQuality
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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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South Asian
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European (Non-Finnish)
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FS
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 3.000660145231951e-5
allele num: 66652
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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ClippingRankSum
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FS
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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ReadPosRankSum
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MQ
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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Other
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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FS
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MQRankSum
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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African
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Other
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European (Finnish)
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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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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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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Other
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BaseQRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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South Asian
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Other
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East Asian
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DP
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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VQSLOD
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QD
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African
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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FS
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QD
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BaseQRankSum
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VQSLOD
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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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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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MQRankSum
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QD
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InbreedingCoeff
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FS
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VQSLOD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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Latino
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South Asian
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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FS
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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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African
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Other
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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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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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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South Asian
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DP
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ReadPosRankSum
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FS
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MQ
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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Latino
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African
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QD
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VQSLOD
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FS
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DP
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MQ
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South Asian
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African
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MQ
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ClippingRankSum
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VQSLOD
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DP
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QD
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MQRankSum
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FS
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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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East Asian
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Latino
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African
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European (Non-Finnish)
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South Asian
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QD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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Latino
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MQ
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InbreedingCoeff
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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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ReadPosRankSum
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QD
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ClippingRankSum
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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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South Asian
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East Asian
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African
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Latino
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European (Non-Finnish)
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ClippingRankSum
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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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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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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FS
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BaseQRankSum
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MQRankSum
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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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East Asian
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Latino
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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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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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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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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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MQ
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MQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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FS
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