11-112070419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070419
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070419
    reference: chr 11
allele count: 49
allele frequency: 4.04771345492995e-4
allele num: 121056
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.635-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.635-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.635-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.635-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*379-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.431-3C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*160-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2327C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1668-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.737-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.770-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.518-3C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.422-3C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.431-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-112070423-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070423
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070423
    reference: chr 11
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1669T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.636T>G
  hgvsp: ENST00000438022.1:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.519T>G
  hgvsp: ENST00000361053.4:c.519T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.432T>G
  hgvsp: ENST00000532612.1:c.432T>G(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.771T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2323T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*380T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.636T>G
  hgvsp: ENST00000531169.1:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*161T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.636T>G
  hgvsp: ENST00000526088.1:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.636T>G
  hgvsp: ENST00000393032.2:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.738T>G
  hgvsp: ENST00000357685.5:c.738T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.423T>G
  hgvsp: ENST00000532593.1:c.423T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.432T>G
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-112070431-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070431
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070431
    reference: chr 11
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.644A>C
  hgvsp: ENSP00000414843.1:p.Tyr215Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.746A>C
  hgvsp: ENSP00000350314.5:p.Tyr249Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.440A>C
  hgvsp: ENSP00000476560.1:p.Tyr147Ser
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1677A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.644A>C
  hgvsp: ENSP00000376752.2:p.Tyr215Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2315A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*169A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.644A>C
  hgvsp: ENSP00000437053.1:p.Tyr215Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.527A>C
  hgvsp: ENSP00000354338.4:p.Tyr176Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.644A>C
  hgvsp: ENSP00000436615.1:p.Tyr215Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*388A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.431A>C
  hgvsp: ENSP00000431802.1:p.Tyr144Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.779A>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr147Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-112070431-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070431
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070431
    reference: chr 11
allele count: 258
allele frequency: 2.127975454050576e-3
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.431A>G
  hgvsp: ENSP00000431802.1:p.Tyr144Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2315A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*388A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.746A>G
  hgvsp: ENSP00000350314.5:p.Tyr249Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.644A>G
  hgvsp: ENSP00000436615.1:p.Tyr215Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1677A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.440A>G
  hgvsp: ENSP00000476560.1:p.Tyr147Cys
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.779A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.644A>G
  hgvsp: ENSP00000376752.2:p.Tyr215Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.644A>G
  hgvsp: ENSP00000414843.1:p.Tyr215Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.527A>G
  hgvsp: ENSP00000354338.4:p.Tyr176Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.644A>G
  hgvsp: ENSP00000437053.1:p.Tyr215Cys
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*169A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6338
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 8.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
hgvs: p.Tyr147Cys
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-112070433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070433
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070433
    reference: chr 11
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.781A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.646A>G
  hgvsp: ENSP00000436615.1:p.Lys216Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.529A>G
  hgvsp: ENSP00000354338.4:p.Lys177Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*390A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1679A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.442A>G
  hgvsp: ENSP00000476560.1:p.Lys148Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.646A>G
  hgvsp: ENSP00000414843.1:p.Lys216Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.748A>G
  hgvsp: ENSP00000350314.5:p.Lys250Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.646A>G
  hgvsp: ENSP00000376752.2:p.Lys216Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.646A>G
  hgvsp: ENSP00000437053.1:p.Lys216Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2313A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.433A>G
  hgvsp: ENSP00000431802.1:p.Lys145Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*171A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys148Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

11-112070435-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070435
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070435
    reference: chr 11
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2311G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*173G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.444G>C
  hgvsp: ENSP00000476560.1:p.Lys148Asn
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.648G>C
  hgvsp: ENSP00000414843.1:p.Lys216Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.531G>C
  hgvsp: ENSP00000354338.4:p.Lys177Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.648G>C
  hgvsp: ENSP00000436615.1:p.Lys216Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*392G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.435G>C
  hgvsp: ENSP00000431802.1:p.Lys145Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.648G>C
  hgvsp: ENSP00000437053.1:p.Lys216Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.750G>C
  hgvsp: ENSP00000350314.5:p.Lys250Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.648G>C
  hgvsp: ENSP00000376752.2:p.Lys216Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1681G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.783G>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys148Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-112070442-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070442
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070442
    reference: chr 11
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.451C>G
  hgvsp: ENSP00000476560.1:p.Arg151Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.655C>G
  hgvsp: ENSP00000436615.1:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.655C>G
  hgvsp: ENSP00000376752.2:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*399C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2304C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.442C>G
  hgvsp: ENSP00000431802.1:p.Arg148Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.655C>G
  hgvsp: ENSP00000437053.1:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.757C>G
  hgvsp: ENSP00000350314.5:p.Arg253Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1688C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.538C>G
  hgvsp: ENSP00000354338.4:p.Arg180Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*180C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.655C>G
  hgvsp: ENSP00000414843.1:p.Arg219Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.790C>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg151Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-112070442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070442
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070442
    reference: chr 11
allele count: 5
allele frequency: 4.12139995713744e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.655C>T
  hgvsp: ENSP00000376752.2:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*180C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.757C>T
  hgvsp: ENSP00000350314.5:p.Arg253Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.451C>T
  hgvsp: ENSP00000476560.1:p.Arg151Trp
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.655C>T
  hgvsp: ENSP00000437053.1:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.655C>T
  hgvsp: ENSP00000436615.1:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.442C>T
  hgvsp: ENSP00000431802.1:p.Arg148Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.655C>T
  hgvsp: ENSP00000414843.1:p.Arg219Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.790C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1688C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.538C>T
  hgvsp: ENSP00000354338.4:p.Arg180Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*399C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2304C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg151Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

11-112070443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070443
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070443
    reference: chr 11
allele count: 6
allele frequency: 4.944946264917255e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.656G>A
  hgvsp: ENSP00000376752.2:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.539G>A
  hgvsp: ENSP00000354338.4:p.Arg180Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.443G>A
  hgvsp: ENSP00000431802.1:p.Arg148Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.656G>A
  hgvsp: ENSP00000414843.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.452G>A
  hgvsp: ENSP00000476560.1:p.Arg151Gln
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.656G>A
  hgvsp: ENSP00000436615.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*400G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.656G>A
  hgvsp: ENSP00000437053.1:p.Arg219Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.758G>A
  hgvsp: ENSP00000350314.5:p.Arg253Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.791G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1689G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2303G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg151Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

11-112070445-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070445
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070445
    reference: chr 11
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.658G>T
  hgvsp: ENSP00000376752.2:p.Val220Phe
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.658G>T
  hgvsp: ENSP00000414843.1:p.Val220Phe
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.658G>T
  hgvsp: ENSP00000437053.1:p.Val220Phe
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.793G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.658G>T
  hgvsp: ENSP00000436615.1:p.Val220Phe
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.541G>T
  hgvsp: ENSP00000354338.4:p.Val181Phe
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*183G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*402G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.760G>T
  hgvsp: ENSP00000350314.5:p.Val254Phe
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.454G>T
  hgvsp: ENSP00000476560.1:p.Val152Phe
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1691G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2301G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.445G>T
  hgvsp: ENSP00000431802.1:p.Val149Phe
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Val152Phe
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

11-112070455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070455
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070455
    reference: chr 11
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.551A>G
  hgvsp: ENSP00000354338.4:p.Glu184Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*193A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.770A>G
  hgvsp: ENSP00000350314.5:p.Glu257Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.668A>G
  hgvsp: ENSP00000414843.1:p.Glu223Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.668A>G
  hgvsp: ENSP00000376752.2:p.Glu223Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1701A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*412A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.464A>G
  hgvsp: ENSP00000476560.1:p.Glu155Gly
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.455A>G
  hgvsp: ENSP00000431802.1:p.Glu152Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.668A>G
  hgvsp: ENSP00000436615.1:p.Glu223Gly
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2291A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.803A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.668A>G
  hgvsp: ENSP00000437053.1:p.Glu223Gly
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu155Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-112070468-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070468
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070467
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*210delG
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.685delG
  hgvsp: ENSP00000376752.2:p.Glu229ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.685delG
  hgvsp: ENSP00000437053.1:p.Glu229ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.481delG
  hgvsp: ENSP00000476560.1:p.Glu161ArgfsTer8
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.820delG
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.787delG
  hgvsp: ENSP00000350314.5:p.Glu263ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*429delG
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1718delG
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.568delG
  hgvsp: ENSP00000354338.4:p.Glu190ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.685delG
  hgvsp: ENSP00000414843.1:p.Glu229ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.472delG
  hgvsp: ENSP00000431802.1:p.Glu158ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.685delG
  hgvsp: ENSP00000436615.1:p.Glu229ArgfsTer8
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2274delG
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu161ArgfsTer8
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: TG
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD

11-112070475-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070475
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070475
    reference: chr 11
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*213A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.688A>T
  hgvsp: ENSP00000376752.2:p.Thr230Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.790A>T
  hgvsp: ENSP00000350314.5:p.Thr264Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.571A>T
  hgvsp: ENSP00000354338.4:p.Thr191Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.484A>T
  hgvsp: ENSP00000476560.1:p.Thr162Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.688A>T
  hgvsp: ENSP00000414843.1:p.Thr230Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.688A>T
  hgvsp: ENSP00000436615.1:p.Thr230Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.823A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.475A>T
  hgvsp: ENSP00000431802.1:p.Thr159Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2271A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.688A>T
  hgvsp: ENSP00000437053.1:p.Thr230Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1721A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*432A>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr162Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

11-112070478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070478
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070478
    reference: chr 11
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.691A>G
  hgvsp: ENSP00000376752.2:p.Ile231Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.793A>G
  hgvsp: ENSP00000350314.5:p.Ile265Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*216A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.574A>G
  hgvsp: ENSP00000354338.4:p.Ile192Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*435A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1724A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.478A>G
  hgvsp: ENSP00000431802.1:p.Ile160Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.691A>G
  hgvsp: ENSP00000436615.1:p.Ile231Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.487A>G
  hgvsp: ENSP00000476560.1:p.Ile163Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.691A>G
  hgvsp: ENSP00000437053.1:p.Ile231Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.691A>G
  hgvsp: ENSP00000414843.1:p.Ile231Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.826A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2268A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile163Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/11-112070482-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070482
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070482
    reference: chr 11
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2264A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.695A>C
  hgvsp: ENSP00000376752.2:p.His232Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.830A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.695A>C
  hgvsp: ENSP00000414843.1:p.His232Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*220A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.578A>C
  hgvsp: ENSP00000354338.4:p.His193Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.491A>C
  hgvsp: ENSP00000476560.1:p.His164Pro
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.695A>C
  hgvsp: ENSP00000436615.1:p.His232Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.482A>C
  hgvsp: ENSP00000431802.1:p.His161Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*439A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.797A>C
  hgvsp: ENSP00000350314.5:p.His266Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.695A>C
  hgvsp: ENSP00000437053.1:p.His232Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1728A>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His164Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

11-112070496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070496
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070496
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.496A>G
  hgvsp: ENSP00000431802.1:p.Ile166Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.505A>G
  hgvsp: ENSP00000476560.1:p.Ile169Val
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.709A>G
  hgvsp: ENSP00000437053.1:p.Ile237Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.844A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.592A>G
  hgvsp: ENSP00000354338.4:p.Ile198Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+4A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.709A>G
  hgvsp: ENSP00000376752.2:p.Ile237Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*234A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.709A>G
  hgvsp: ENSP00000414843.1:p.Ile237Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.811A>G
  hgvsp: ENSP00000350314.5:p.Ile271Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2250A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*453A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.709A>G
  hgvsp: ENSP00000436615.1:p.Ile237Val
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile169Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-112070500-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070500
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070500
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.848G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.509G>A
  hgvsp: ENSP00000476560.1:p.Cys170Tyr
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.815G>A
  hgvsp: ENSP00000350314.5:p.Cys272Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.713G>A
  hgvsp: ENSP00000437053.1:p.Cys238Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*238G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.596G>A
  hgvsp: ENSP00000354338.4:p.Cys199Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+8G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.713G>A
  hgvsp: ENSP00000414843.1:p.Cys238Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.500G>A
  hgvsp: ENSP00000431802.1:p.Cys167Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.713G>A
  hgvsp: ENSP00000436615.1:p.Cys238Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.713G>A
  hgvsp: ENSP00000376752.2:p.Cys238Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*457G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2246G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4036
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys170Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-112070505-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070505
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070505
    reference: chr 11
allele count: 5
allele frequency: 4.118751853438334e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+13A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.820A>G
  hgvsp: ENSP00000350314.5:p.Ile274Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.601A>G
  hgvsp: ENSP00000354338.4:p.Ile201Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.718A>G
  hgvsp: ENSP00000414843.1:p.Ile240Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.505A>G
  hgvsp: ENSP00000431802.1:p.Ile169Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.718A>G
  hgvsp: ENSP00000376752.2:p.Ile240Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.718A>G
  hgvsp: ENSP00000436615.1:p.Ile240Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*243A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.514A>G
  hgvsp: ENSP00000476560.1:p.Ile172Val
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*462A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.718A>G
  hgvsp: ENSP00000437053.1:p.Ile240Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2241A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.853A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile172Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

11-112070515-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070515
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070515
    reference: chr 11
allele count: 46
allele frequency: 3.789438998270039e-4
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2231C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.830C>G
  hgvsp: ENSP00000350314.5:p.Thr277Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.863C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.728C>G
  hgvsp: ENSP00000436615.1:p.Thr243Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.728C>G
  hgvsp: ENSP00000437053.1:p.Thr243Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.515C>G
  hgvsp: ENSP00000431802.1:p.Thr172Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*472C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.524C>G
  hgvsp: ENSP00000476560.1:p.Thr175Arg
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.728C>G
  hgvsp: ENSP00000414843.1:p.Thr243Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.611C>G
  hgvsp: ENSP00000354338.4:p.Thr204Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.728C>G
  hgvsp: ENSP00000376752.2:p.Thr243Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+23C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*253C>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4660
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Thr175Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-112070530-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070530
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070530
    reference: chr 11
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*268C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.530C>T
  hgvsp: ENSP00000431802.1:p.Pro177Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.539C>T
  hgvsp: ENSP00000476560.1:p.Pro180Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.743C>T
  hgvsp: ENSP00000436615.1:p.Pro248Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.845C>T
  hgvsp: ENSP00000350314.5:p.Pro282Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.743C>T
  hgvsp: ENSP00000414843.1:p.Pro248Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.743C>T
  hgvsp: ENSP00000376752.2:p.Pro248Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2216C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.626C>T
  hgvsp: ENSP00000354338.4:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.743C>T
  hgvsp: ENSP00000437053.1:p.Pro248Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*487C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+38C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.878C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro180Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

11-112070541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070541
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070541
    reference: chr 11
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*498C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.754C>T
  hgvsp: ENSP00000437053.1:p.His252Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.856C>T
  hgvsp: ENSP00000350314.5:p.His286Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.550C>T
  hgvsp: ENSP00000476560.1:p.His184Tyr
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.754C>T
  hgvsp: ENSP00000436615.1:p.His252Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.541C>T
  hgvsp: ENSP00000431802.1:p.His181Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*279C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.754C>T
  hgvsp: ENSP00000414843.1:p.His252Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.637C>T
  hgvsp: ENSP00000354338.4:p.His213Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.754C>T
  hgvsp: ENSP00000376752.2:p.His252Tyr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.889C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2205C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+49C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His184Tyr
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-112070550-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070550
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070550
    reference: chr 11
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550G>T
  hgvsp: ENSP00000431802.1:p.Gly184Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2196G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763G>T
  hgvsp: ENSP00000437053.1:p.Gly255Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763G>T
  hgvsp: ENSP00000436615.1:p.Gly255Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763G>T
  hgvsp: ENSP00000376752.2:p.Gly255Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763G>T
  hgvsp: ENSP00000414843.1:p.Gly255Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865G>T
  hgvsp: ENSP00000350314.5:p.Gly289Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559G>T
  hgvsp: ENSP00000476560.1:p.Gly187Ter
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646G>T
  hgvsp: ENSP00000354338.4:p.Gly216Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+58G>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4945
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly187Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

11-112070557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070557
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070557
    reference: chr 11
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+65C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2189C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+7C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.559+7C>T
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

11-112070562-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070562
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070562
    reference: chr 11
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2184G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+70G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+12G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+12G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+12G>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4943
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

11-112070565-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070565
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070565
    reference: chr 11
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2181A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+73A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+15A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+15A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+15A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-112070570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070570
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070570
    reference: chr 11
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+20A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2176A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+20A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+78A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

11-112070578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070578
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070578
    reference: chr 11
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+86G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2168G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+28G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+28G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+28G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

11-112070582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070582
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070582
    reference: chr 11
allele count: 5
allele frequency: 4.127387693780853e-5
allele num: 121142
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+32G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2164G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+90G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+32G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+32G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-112070593-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070593
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070593
    reference: chr 11
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2153A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+101A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+43A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+43A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+43A>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-112070594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112070594
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112070594
    reference: chr 11
allele count: 15
allele frequency: 1.239034544283095e-4
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.763+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.646+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.763+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.559+44T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.898+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.763+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.550+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1738+102T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*507+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.865+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-2152T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.763+44T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*288+44T>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

11-112071286-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071286
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071286
    reference: chr 11
allele count: 1
allele frequency: 8.485938799409379e-6
allele num: 117842
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-50C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1460C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.189C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-50C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-50C>G
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5285
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-112071287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071287
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071287
    reference: chr 11
allele count: 2
allele frequency: 1.693967780732811e-5
allele num: 118066
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.190A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1459A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-49A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-49A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-49A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

11-112071291-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071291
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071291
    reference: chr 11
allele count: 1
allele frequency: 8.46811753747142e-6
allele num: 118090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.194C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1455C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-45C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-45C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-45C>G
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3032
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-112071294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071294
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071294
    reference: chr 11
allele count: 24039
allele frequency: 2.030183771366799e-1
allele num: 118408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-42G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1452G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.197G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-42G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-42G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 1.75e1
  variant carriers: 735
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.75e1
  variant carriers: 542
genotype depth: GenotypeDepth
  all individuals: 5508
  bin: 2.25e1
  variant carriers: 1032
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 7.5e0
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 3.75e1
  variant carriers: 2846
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 2087
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.25e1
  variant carriers: 2190
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.75e1
  variant carriers: 1546
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 1.25e1
  variant carriers: 511
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 680
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.75e1
  variant carriers: 1323
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 872
genotype quality: GenotypeQuality
num of homozygotes: 3086
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

11-112071303-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071303
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071303
    reference: chr 11
allele count: 1
allele frequency: 8.403502579875292e-6
allele num: 118998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.206A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1443A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-33A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-33A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-33A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7333
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-112071307-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071307
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071307
    reference: chr 11
allele count: 1
allele frequency: 8.388558006878617e-6
allele num: 119210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.210C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-29C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-29C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1439C>A
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

11-112071307-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071307
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071307
    reference: chr 11
allele count: 2
allele frequency: 1.677711601375723e-5
allele num: 119210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1439C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.210C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-29C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-29C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-29C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-112071310-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071310
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071310
    reference: chr 11
allele count: 2
allele frequency: 1.675041876046901e-5
allele num: 119400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1436T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.213T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-26T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-26T>G
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

11-112071321-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071321
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071321
    reference: chr 11
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1425G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.224G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-15G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-15G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-15G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

11-112071322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071322
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071322
    reference: chr 11
allele count: 3
allele frequency: 2.493682670567895e-5
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.225C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1424C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-14C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-14C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-14C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

11-112071324-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071324
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071324
    reference: chr 11
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1422G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.227G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-12G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-12G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-12G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-112071328-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071328
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071328
    reference: chr 11
allele count: 4
allele frequency: 3.31619963521804e-5
allele num: 120620
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-8C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1418C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.231C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-8C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-8C>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.560-8C>A
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

11-112071328-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071328
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071328
    reference: chr 11
allele count: 1
allele frequency: 8.290499088045101e-6
allele num: 120620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1418C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-8C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.231C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-8C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-8C>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.560-8C>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/11-112071329-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071329
    reference: chr 11
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1417C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-7C>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-7C>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.232C>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.560-7C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

11-112071329-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071329
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071329
    reference: chr 11
allele count: 1
allele frequency: 8.286514526259965e-6
allele num: 120678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.232C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560-7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899-7C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1417C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.560-7C>T
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

11-112071336-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071336
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071336
    reference: chr 11
allele count: 483
allele frequency: 3.995235495558093e-3
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.764G>A
  hgvsp: ENSP00000376752.2:p.Gly255Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.764G>A
  hgvsp: ENSP00000437053.1:p.Gly255Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*289G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.647G>A
  hgvsp: ENSP00000354338.4:p.Gly216Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.551G>A
  hgvsp: ENSP00000431802.1:p.Gly184Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.764G>A
  hgvsp: ENSP00000414843.1:p.Gly255Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1739G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.899G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.560G>A
  hgvsp: ENSP00000476560.1:p.Gly187Glu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.764G>A
  hgvsp: ENSP00000436615.1:p.Gly255Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.866G>A
  hgvsp: ENSP00000350314.5:p.Gly289Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.239G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*508G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1410G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 9.75e1
  variant carriers: 141
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Gly187Glu
num of homozygotes: 10
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

11-112071338-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071338
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071338
    reference: chr 11
allele count: 22
allele frequency: 1.818903366624777e-4
allele num: 120952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.766A>G
  hgvsp: ENSP00000436615.1:p.Met256Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.562A>G
  hgvsp: ENSP00000476560.1:p.Met188Val
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.901A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.766A>G
  hgvsp: ENSP00000414843.1:p.Met256Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1741A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.241A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1408A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.553A>G
  hgvsp: ENSP00000431802.1:p.Met185Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.868A>G
  hgvsp: ENSP00000350314.5:p.Met290Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.649A>G
  hgvsp: ENSP00000354338.4:p.Met217Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.766A>G
  hgvsp: ENSP00000437053.1:p.Met256Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.766A>G
  hgvsp: ENSP00000376752.2:p.Met256Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*291A>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*510A>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met188Val
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

11-112071342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071342
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071342
    reference: chr 11
allele count: 5
allele frequency: 4.132436319156322e-5
allele num: 120994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.653C>T
  hgvsp: ENSP00000354338.4:p.Thr218Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.770C>T
  hgvsp: ENSP00000436615.1:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*514C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1745C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.245C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.566C>T
  hgvsp: ENSP00000476560.1:p.Thr189Ile
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.905C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.770C>T
  hgvsp: ENSP00000437053.1:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.557C>T
  hgvsp: ENSP00000431802.1:p.Thr186Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.872C>T
  hgvsp: ENSP00000350314.5:p.Thr291Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*295C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.770C>T
  hgvsp: ENSP00000376752.2:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.770C>T
  hgvsp: ENSP00000414843.1:p.Thr257Ile
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1404C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8001
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr189Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

11-112071350-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071350
    reference: chr 11
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1753T>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*522T>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.253T>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.778T>A
  hgvsp: ENSP00000414843.1:p.Tyr260Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.565T>A
  hgvsp: ENSP00000431802.1:p.Tyr189Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.778T>A
  hgvsp: ENSP00000436615.1:p.Tyr260Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.880T>A
  hgvsp: ENSP00000350314.5:p.Tyr294Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.574T>A
  hgvsp: ENSP00000476560.1:p.Tyr192Asn
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.913T>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.661T>A
  hgvsp: ENSP00000354338.4:p.Tyr221Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.778T>A
  hgvsp: ENSP00000376752.2:p.Tyr260Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.778T>A
  hgvsp: ENSP00000437053.1:p.Tyr260Asn
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1396T>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*303T>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr192Asn
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

11-112071350-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071350
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071350
    reference: chr 11
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.565T>C
  hgvsp: ENSP00000431802.1:p.Tyr189His
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*522T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.574T>C
  hgvsp: ENSP00000476560.1:p.Tyr192His
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.253T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*303T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.880T>C
  hgvsp: ENSP00000350314.5:p.Tyr294His
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.778T>C
  hgvsp: ENSP00000414843.1:p.Tyr260His
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.661T>C
  hgvsp: ENSP00000354338.4:p.Tyr221His
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1753T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.778T>C
  hgvsp: ENSP00000436615.1:p.Tyr260His
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.778T>C
  hgvsp: ENSP00000437053.1:p.Tyr260His
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1396T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.913T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.778T>C
  hgvsp: ENSP00000376752.2:p.Tyr260His
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8378
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr192His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

11-112071352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071352
    reference: chr 11
allele count: 7
allele frequency: 5.778628978998811e-5
allele num: 121136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.255T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.915T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.882T>C
  hgvsp: ENST00000357685.5:c.882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.576T>C
  hgvsp: ENST00000532612.1:c.576T>C(p.%3D)
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1394T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.780T>C
  hgvsp: ENST00000531169.1:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1755T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*305T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.780T>C
  hgvsp: ENST00000438022.1:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.780T>C
  hgvsp: ENST00000393032.2:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*524T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.663T>C
  hgvsp: ENST00000361053.4:c.663T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.780T>C
  hgvsp: ENST00000526088.1:c.780T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.567T>C
  hgvsp: ENST00000532593.1:c.567T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr192Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

11-112071353-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071353
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071353
    reference: chr 11
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.781A>T
  hgvsp: ENSP00000436615.1:p.Ile261Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1756A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.577A>T
  hgvsp: ENSP00000476560.1:p.Ile193Leu
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.781A>T
  hgvsp: ENSP00000414843.1:p.Ile261Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.883A>T
  hgvsp: ENSP00000350314.5:p.Ile295Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.256A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*306A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.664A>T
  hgvsp: ENSP00000354338.4:p.Ile222Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1393A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.916A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.781A>T
  hgvsp: ENSP00000437053.1:p.Ile261Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*525A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.781A>T
  hgvsp: ENSP00000376752.2:p.Ile261Leu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.568A>T
  hgvsp: ENSP00000431802.1:p.Ile190Leu
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile193Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

11-112071363-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071363
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071363
    reference: chr 11
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.791T>G
  hgvsp: ENSP00000376752.2:p.Ile264Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*316T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.791T>G
  hgvsp: ENSP00000437053.1:p.Ile264Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.266T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1383T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.791T>G
  hgvsp: ENSP00000436615.1:p.Ile264Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1766T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.578T>G
  hgvsp: ENSP00000431802.1:p.Ile193Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.893T>G
  hgvsp: ENSP00000350314.5:p.Ile298Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.791T>G
  hgvsp: ENSP00000414843.1:p.Ile264Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.587T>G
  hgvsp: ENSP00000476560.1:p.Ile196Ser
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.674T>G
  hgvsp: ENSP00000354338.4:p.Ile225Ser
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*535T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.926T>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile196Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

11-112071372-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071372
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071372
    reference: chr 11
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.935C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.902C>G
  hgvsp: ENSP00000350314.5:p.Pro301Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.800C>G
  hgvsp: ENSP00000414843.1:p.Pro267Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.596C>G
  hgvsp: ENSP00000476560.1:p.Pro199Arg
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*544C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1374C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.800C>G
  hgvsp: ENSP00000436615.1:p.Pro267Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.683C>G
  hgvsp: ENSP00000354338.4:p.Pro228Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.800C>G
  hgvsp: ENSP00000437053.1:p.Pro267Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.800C>G
  hgvsp: ENSP00000376752.2:p.Pro267Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.275C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.587C>G
  hgvsp: ENSP00000431802.1:p.Pro196Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1775C>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*325C>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro199Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-112071373-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071373
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071373
    reference: chr 11
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.801T>G
  hgvsp: ENST00000393032.2:c.801T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.936T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.684T>G
  hgvsp: ENST00000361053.4:c.684T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.588T>G
  hgvsp: ENST00000532593.1:c.588T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.801T>G
  hgvsp: ENST00000438022.1:c.801T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.597T>G
  hgvsp: ENST00000532612.1:c.597T>G(p.%3D)
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.903T>G
  hgvsp: ENST00000357685.5:c.903T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.276T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*545T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1776T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.801T>G
  hgvsp: ENST00000531169.1:c.801T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.801T>G
  hgvsp: ENST00000526088.1:c.801T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1373T>G
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000434488
  ensembl transcript: ENST00000534550
  gene symbol: BCO2
  hgvsc: ENST00000534550.1:c.*326T>G
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro199Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

11-112071385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071385
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071385
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.813C>T
  hgvsp: ENST00000531169.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1788C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.600C>T
  hgvsp: ENST00000532593.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.609C>T
  hgvsp: ENST00000532612.1:c.609C>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.696C>T
  hgvsp: ENST00000361053.4:c.696C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1361C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.813C>T
  hgvsp: ENST00000438022.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.288C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.813C>T
  hgvsp: ENST00000526088.1:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.813C>T
  hgvsp: ENST00000393032.2:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.948C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.915C>T
  hgvsp: ENST00000357685.5:c.915C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*557C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn203Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-112071388-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071388
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071388
    reference: chr 11
allele count: 5
allele frequency: 4.120788554097712e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.951G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*560G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.291G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000272790
  ensembl protein: ENSP00000476560
  ensembl transcript: ENST00000532612
  gene symbol: AP002884.3
  hgvsc: ENST00000532612.1:c.612G>T
  hgvsp: ENST00000532612.1:c.612G>T(p.%3D)
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1791G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1358G>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.816G>T
  hgvsp: ENST00000531169.1:c.816G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.603G>T
  hgvsp: ENST00000532593.1:c.603G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.816G>T
  hgvsp: ENST00000393032.2:c.816G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.816G>T
  hgvsp: ENST00000526088.1:c.816G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.816G>T
  hgvsp: ENST00000438022.1:c.816G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.918G>T
  hgvsp: ENST00000357685.5:c.918G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.699G>T
  hgvsp: ENST00000361053.4:c.699G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu204Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-112071396-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071396
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071396
    reference: chr 11
allele count: 9
allele frequency: 7.416074754033521e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.959T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.824T>C
  hgvsp: ENSP00000436615.1:p.Ile275Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.299T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.824T>C
  hgvsp: ENSP00000376752.2:p.Ile275Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.926T>C
  hgvsp: ENSP00000350314.5:p.Ile309Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.824T>C
  hgvsp: ENSP00000437053.1:p.Ile275Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*568T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.611T>C
  hgvsp: ENSP00000431802.1:p.Ile204Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.824T>C
  hgvsp: ENSP00000414843.1:p.Ile275Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.707T>C
  hgvsp: ENSP00000354338.4:p.Ile236Thr
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1350T>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1799T>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile309Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/11-112071401-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071401
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071401
    reference: chr 11
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.829A>C
  hgvsp: ENSP00000414843.1:p.Thr277Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.829A>C
  hgvsp: ENSP00000436615.1:p.Thr277Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*573A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.616A>C
  hgvsp: ENSP00000431802.1:p.Thr206Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1804A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.829A>C
  hgvsp: ENSP00000437053.1:p.Thr277Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.964A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.304A>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.829A>C
  hgvsp: ENSP00000376752.2:p.Thr277Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.712A>C
  hgvsp: ENSP00000354338.4:p.Thr238Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.931A>C
  hgvsp: ENSP00000350314.5:p.Thr311Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1345A>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr311Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-112071407-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071407
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071407
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.835A>T
  hgvsp: ENSP00000436615.1:p.Lys279Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.835A>T
  hgvsp: ENSP00000376752.2:p.Lys279Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.970A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.835A>T
  hgvsp: ENSP00000414843.1:p.Lys279Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.937A>T
  hgvsp: ENSP00000350314.5:p.Lys313Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1810A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.835A>T
  hgvsp: ENSP00000437053.1:p.Lys279Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.310A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*579A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.718A>T
  hgvsp: ENSP00000354338.4:p.Lys240Ter
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1339A>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.622A>T
  hgvsp: ENSP00000431802.1:p.Lys208Ter
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys313Ter
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-112071413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071413
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071413
    reference: chr 11
allele count: 9
allele frequency: 7.416196974191635e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.628C>T
  hgvsp: ENSP00000431802.1:p.Arg210Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.841C>T
  hgvsp: ENSP00000376752.2:p.Arg281Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.943C>T
  hgvsp: ENSP00000350314.5:p.Arg315Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.841C>T
  hgvsp: ENSP00000414843.1:p.Arg281Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.316C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1816C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.724C>T
  hgvsp: ENSP00000354338.4:p.Arg242Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1333C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.841C>T
  hgvsp: ENSP00000437053.1:p.Arg281Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.841C>T
  hgvsp: ENSP00000436615.1:p.Arg281Trp
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.976C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*585C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg315Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-112071414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071414
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071414
    reference: chr 11
allele count: 6
allele frequency: 4.944049836022347e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.842G>A
  hgvsp: ENSP00000376752.2:p.Arg281Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.944G>A
  hgvsp: ENSP00000350314.5:p.Arg315Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*586G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.842G>A
  hgvsp: ENSP00000437053.1:p.Arg281Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.725G>A
  hgvsp: ENSP00000354338.4:p.Arg242Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.842G>A
  hgvsp: ENSP00000436615.1:p.Arg281Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.317G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1817G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.842G>A
  hgvsp: ENSP00000414843.1:p.Arg281Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.629G>A
  hgvsp: ENSP00000431802.1:p.Arg210Gln
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1332G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.977G>A
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg315Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

11-112071414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071414
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071414
    reference: chr 11
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.629G>C
  hgvsp: ENSP00000431802.1:p.Arg210Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.977G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.944G>C
  hgvsp: ENSP00000350314.5:p.Arg315Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.842G>C
  hgvsp: ENSP00000436615.1:p.Arg281Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.317G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1817G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.725G>C
  hgvsp: ENSP00000354338.4:p.Arg242Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.842G>C
  hgvsp: ENSP00000437053.1:p.Arg281Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.842G>C
  hgvsp: ENSP00000414843.1:p.Arg281Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*586G>C
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.842G>C
  hgvsp: ENSP00000376752.2:p.Arg281Pro
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1332G>C
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg315Pro
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

11-112071416-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071416
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071416
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1330G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.946G>A
  hgvsp: ENSP00000350314.5:p.Gly316Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.844G>A
  hgvsp: ENSP00000414843.1:p.Gly282Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*588G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.727G>A
  hgvsp: ENSP00000354338.4:p.Gly243Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1819G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.979G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.319G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.844G>A
  hgvsp: ENSP00000437053.1:p.Gly282Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.844G>A
  hgvsp: ENSP00000436615.1:p.Gly282Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.631G>A
  hgvsp: ENSP00000431802.1:p.Gly211Arg
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.844G>A
  hgvsp: ENSP00000376752.2:p.Gly282Arg
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly316Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

11-112071417-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071417
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071417
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.845G>A
  hgvsp: ENSP00000437053.1:p.Gly282Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.728G>A
  hgvsp: ENSP00000354338.4:p.Gly243Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*589G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.980G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.845G>A
  hgvsp: ENSP00000436615.1:p.Gly282Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1329G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.632G>A
  hgvsp: ENSP00000431802.1:p.Gly211Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.845G>A
  hgvsp: ENSP00000414843.1:p.Gly282Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.845G>A
  hgvsp: ENSP00000376752.2:p.Gly282Glu
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.320G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1820G>A
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.947G>A
  hgvsp: ENSP00000350314.5:p.Gly316Glu
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly316Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

11-112071423-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 112071423
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 112071423
    reference: chr 11
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000527198
  gene symbol: BCO2
  hgvsc: ENST00000527198.1:n.326C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000414843
  ensembl transcript: ENST00000438022
  gene symbol: BCO2
  hgvsc: ENST00000438022.1:c.851C>T
  hgvsp: ENSP00000414843.1:p.Ala284Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000437053
  ensembl transcript: ENST00000531169
  gene symbol: BCO2
  hgvsc: ENST00000531169.1:c.851C>T
  hgvsp: ENSP00000437053.1:p.Ala284Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000354338
  ensembl transcript: ENST00000361053
  gene symbol: BCO2
  hgvsc: ENST00000361053.4:c.734C>T
  hgvsp: ENSP00000354338.4:p.Ala245Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436615
  ensembl transcript: ENST00000526088
  gene symbol: BCO2
  hgvsc: ENST00000526088.1:c.851C>T
  hgvsp: ENSP00000436615.1:p.Ala284Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000350314
  ensembl transcript: ENST00000357685
  gene symbol: BCO2
  hgvsc: ENST00000357685.5:c.953C>T
  hgvsp: ENSP00000350314.5:p.Ala318Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000431802
  ensembl transcript: ENST00000532593
  gene symbol: BCO2
  hgvsc: ENST00000532593.1:c.638C>T
  hgvsp: ENSP00000431802.1:p.Ala213Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000436956
  ensembl transcript: ENST00000527939
  gene symbol: BCO2
  hgvsc: ENST00000527939.1:c.*595C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000460924
  gene symbol: BCO2
  hgvsc: ENST00000460924.2:n.1826C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000376752
  ensembl transcript: ENST00000393032
  gene symbol: BCO2
  hgvsc: ENST00000393032.2:c.851C>T
  hgvsp: ENSP00000376752.2:p.Ala284Val
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000197580
  ensembl transcript: ENST00000494860
  gene symbol: BCO2
  hgvsc: ENST00000494860.1:n.986C>T
  variant of: http://identifiers.org/hgnc/18503
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000197580
  ensembl protein: ENSP00000432045
  ensembl transcript: ENST00000530677
  gene symbol: BCO2
  hgvsc: ENST00000530677.1:c.329-1323C>T
  variant of: http://identifiers.org/hgnc/18503
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5797
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala318Val
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 4959
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 5548
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1411
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4612
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 1767
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1837
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46477
bin: 9.75e1
variant carriers: 49

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

South Asian
type: Population
allele count: 49
allele frequency: 2.988169288937675e-3
allele num: 16398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
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DP
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MQ
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FS
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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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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Other
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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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South Asian
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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allele frequency: 0.0e0
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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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MQRankSum
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

South Asian
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African
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European (Non-Finnish)
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allele num: 66656
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East Asian
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Other
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Latino
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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South Asian
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Other
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African
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MQ
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ClippingRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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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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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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QD
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DP
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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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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FS
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BaseQRankSum
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QD
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MQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5

African
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allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Other
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South Asian
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allele num: 16506
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.49842555105713e-5
allele num: 66690
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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QD
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DP
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele num: 66696
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Latino
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Other
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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ClippingRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
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allele count: 1
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allele num: 11570
num of homozygotes: 0

East Asian
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allele count: 0
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num of homozygotes: 0

European (Finnish)
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South Asian
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African
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Other
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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European (Finnish)
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African
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Latino
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Other
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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East Asian
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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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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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Latino
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European (Finnish)
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South Asian
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

FS
type: SiteQuality
SIO_000300: 1.1707e1

DP
type: SiteQuality
SIO_000300: 3.323998e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6483
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: 2.15e-1

DP
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -9.46e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

FS
type: SiteQuality
SIO_000300: 1.744e0

QD
type: SiteQuality
SIO_000300: 1.587e1

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 4.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 3.324012e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.382e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 3.55e-1

BaseQRankSum
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SIO_000300: -3.972e0

FS
type: SiteQuality
SIO_000300: 1.121e0

DP
type: SiteQuality
SIO_000300: 3.324019e6

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

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

European (Finnish)
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allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
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SIO_000300: 4.25e0

ReadPosRankSum
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SIO_000300: 1.2e0

ClippingRankSum
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SIO_000300: -1.02e0

DP
type: SiteQuality
SIO_000300: 3.324255e6

FS
type: SiteQuality
SIO_000300: 2.425e0

QD
type: SiteQuality
SIO_000300: 1.559e1

GenotypeDepth
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bin: 2.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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bin: 8.25e1
variant carriers: 2

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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bin: 6.25e1
variant carriers: 6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 46

European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.744402146218639e-4
allele num: 66722
num of homozygotes: 0

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

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

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

Other
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allele count: 1
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allele num: 908
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.379e1

DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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FS
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SIO_000300: 1.099e0

BaseQRankSum
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SIO_000300: 9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

East Asian
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allele count: 0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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BaseQRankSum
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VQSLOD
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MQ
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MQRankSum
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SIO_000300: -2.89e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeDepth
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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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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European (Non-Finnish)
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East Asian
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Latino
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South Asian
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FS
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QD
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MQ
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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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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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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MQRankSum
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DP
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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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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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Other
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66640
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Latino
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East Asian
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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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MQRankSum
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ReadPosRankSum
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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Other
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European (Non-Finnish)
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African
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MQ
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InbreedingCoeff
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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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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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African
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Latino
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InbreedingCoeff
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QD
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FS
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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South Asian
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VQSLOD
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QD
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MQ
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FS
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DP
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

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

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

East Asian
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African
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allele frequency: 1.442307692307692e-3
allele num: 10400
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FS
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BaseQRankSum
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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MQRankSum
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DP
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QD
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MQ
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65730
num of homozygotes: 0

European (Finnish)
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allele num: 6610
num of homozygotes: 0

Latino
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allele frequency: 1.739130434782609e-4
allele num: 11500
num of homozygotes: 0

South Asian
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African
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Other
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East Asian
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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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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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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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ReadPosRankSum
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MQ
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QD
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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variant carriers: 158

GenotypeDepth
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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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South Asian
type: Population
allele count: 1498
allele frequency: 9.91002910822969e-2
allele num: 15116
num of homozygotes: 97

Other
type: Population
allele count: 176
allele frequency: 1.99546485260771e-1
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European (Finnish)
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allele count: 1807
allele frequency: 2.738708699605941e-1
allele num: 6598
num of homozygotes: 248

African
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allele count: 470
allele frequency: 4.745557350565428e-2
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num of homozygotes: 10

Latino
type: Population
allele count: 3065
allele frequency: 2.66800139275766e-1
allele num: 11488
num of homozygotes: 425

European (Non-Finnish)
type: Population
allele count: 17009
allele frequency: 2.584325999756898e-1
allele num: 65816
num of homozygotes: 2293

East Asian
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allele frequency: 1.627150162715016e-3
allele num: 8604
num of homozygotes: 0

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

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

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

European (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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South Asian
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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FS
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.454111268878275e-5
allele num: 15494
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: -3.0e0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 2.319109461966605e-4
allele num: 8624
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

MQ
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MQRankSum
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QD
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DP
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VQSLOD
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 2
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allele num: 66192
num of homozygotes: 0

South Asian
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European (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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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16208
num of homozygotes: 0

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

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

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

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

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

MQ
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MQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: 9.409999999999999e-1

QD
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GenotypeDepth
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variant carriers: 1

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

Other
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num of homozygotes: 0

South Asian
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allele frequency: 1.218769043266301e-4
allele num: 16410
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: 2
allele frequency: 3.008242584682029e-5
allele num: 66484
num of homozygotes: 0

ReadPosRankSum
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SIO_000300: 6.46e-1

MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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SIO_000300: 4.436e0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 16410
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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VQSLOD
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SIO_000300: 1.01e0

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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
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QD
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 66510
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African
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South Asian
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East Asian
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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GenotypeDepth
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variant carriers: 28

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

European (Non-Finnish)
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allele count: 5
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allele num: 66588
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Other
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Latino
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allele frequency: 1.643883024744766e-3
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African
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allele frequency: 4.531961211161686e-2
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East Asian
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South Asian
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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MQ
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 22
allele frequency: 2.173054128802845e-3
allele num: 10124
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

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

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

InbreedingCoeff
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SIO_000300: 2.3e-3

VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQ
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DP
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MQRankSum
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FS
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SIO_000300: 5.99e-1

ReadPosRankSum
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SIO_000300: 8.149999999999999e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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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

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.503451587730356e-5
allele num: 66636
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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

InbreedingCoeff
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SIO_000300: 1.3e-3

ReadPosRankSum
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MQRankSum
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DP
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FS
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SIO_000300: 6.915e0

VQSLOD
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QD
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BaseQRankSum
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SIO_000300: -1.763e0

ClippingRankSum
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SIO_000300: 1.7e-2

MQ
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SIO_000300: 6.0e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

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

QD
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SIO_000300: 1.308e1

BaseQRankSum
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SIO_000300: 6.94e-1

VQSLOD
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SIO_000300: 6.09e-1

ClippingRankSum
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
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SIO_000300: 1.13e0

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 2.440079e6

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

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

South Asian
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allele count: 0
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Other
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allele count: 1
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allele num: 906
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East Asian
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allele count: 0
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num of homozygotes: 0

DP
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 8.0e-3

MQRankSum
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VQSLOD
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SIO_000300: 6.09e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 6
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allele num: 66680
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Other
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East Asian
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African
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allele num: 10214
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South Asian
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BaseQRankSum
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QD
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MQRankSum
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ReadPosRankSum
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MQ
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FS
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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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variant carriers: 0

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

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

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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66730
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East Asian
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African
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Latino
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South Asian
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ReadPosRankSum
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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FS
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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DP
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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Latino
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African
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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Other
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East Asian
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European (Finnish)
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MQRankSum
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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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BaseQRankSum
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InbreedingCoeff
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QD
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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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South Asian
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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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European (Finnish)
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MQRankSum
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MQ
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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Other
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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DP
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QD
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

GenotypeDepth
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variant carriers: 1

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

European (Finnish)
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num of homozygotes: 0

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

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