11-5443554-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443554
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443554
    reference: chr 11
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83245T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83245T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75414T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83027T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76425T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75414T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75414T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.124A>G
  hgvsp: ENSP00000300778.4:p.Met42Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75414T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met42Val
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-5443567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443567
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443567
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75427G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.137C>T
  hgvsp: ENSP00000300778.4:p.Thr46Ile
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75427G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76438G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83014G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83232G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83232G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75427G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75427G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17053
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr46Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

11-5443568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443568
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443568
    reference: chr 11
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.138C>T
  hgvsp: ENST00000300778.4:c.138C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75428G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83013G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83231G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83231G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76439G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75428G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75428G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75428G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37882
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr46Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-5443571-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443571
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443571
    reference: chr 11
allele count: 11
allele frequency: 9.060806247014052e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.141C>A
  hgvsp: ENST00000300778.4:c.141C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75431G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76442G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83010G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75431G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83228G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75431G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83228G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75431G>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24711
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile47Ile
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-5443573-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443573
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443573
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75433A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83008A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75433A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83226A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83226A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.143T>C
  hgvsp: ENSP00000300778.4:p.Leu48Pro
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75433A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76444A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75433A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17051
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu48Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

11-5443575-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443575
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443575
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75435T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75435T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83224T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.145A>G
  hgvsp: ENSP00000300778.4:p.Thr49Ala
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83224T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76446T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75435T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83006T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75435T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24705
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr49Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-5443576-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443576
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443576
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76447G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.146C>G
  hgvsp: ENSP00000300778.4:p.Thr49Ser
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83223G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83223G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75436G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75436G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83005G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75436G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75436G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr49Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

11-5443578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443578
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443578
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75438C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83221C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83221C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.148G>A
  hgvsp: ENSP00000300778.4:p.Val50Ile
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83003C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75438C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75438C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75438C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76449C>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37879
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val50Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-5443579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443579
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443579
    reference: chr 11
allele count: 2
allele frequency: 1.647419317638919e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75439A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83220A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76450A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83220A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.149T>C
  hgvsp: ENSP00000300778.4:p.Val50Ala
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75439A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75439A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75439A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+83002A>G
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37879
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val50Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

11-5443585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443585
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443585
    reference: chr 11
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75445C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.155G>A
  hgvsp: ENSP00000300778.4:p.Arg52His
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75445C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76456C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83214C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83214C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75445C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82996C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75445C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg52His
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

11-5443590-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443590
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443590
    reference: chr 11
allele count: 4
allele frequency: 3.294947198471145e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83209C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75450C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83209C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82991C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75450C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75450C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.160G>C
  hgvsp: ENSP00000300778.4:p.Glu54Gln
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75450C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76461C>G
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu54Gln
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

11-5443591-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443591
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443591
    reference: chr 11
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.161A>T
  hgvsp: ENSP00000300778.4:p.Glu54Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76462T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75451T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75451T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75451T>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82990T>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83208T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83208T>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75451T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu54Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-5443596-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443596
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443596
    reference: chr 11
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82985A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83203A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76467A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83203A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.166T>G
  hgvsp: ENSP00000300778.4:p.Ser56Ala
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75456A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75456A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75456A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75456A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24710
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser56Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

11-5443599-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443599
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443599
    reference: chr 11
allele count: 85
allele frequency: 7.002224235933768e-4
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83200C>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83200C>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76470C>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.169G>T
  hgvsp: ENSP00000300778.4:p.Val57Phe
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75459C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75459C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75459C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82982C>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75459C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24718
  bin: 9.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37887
  bin: 9.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16934
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val57Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

11-5443602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443602
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443602
    reference: chr 11
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75462G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.172C>T
  hgvsp: ENSP00000300778.4:p.His58Tyr
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83197G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75462G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82979G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76473G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83197G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75462G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75462G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3946
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37880
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His58Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-5443608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443608
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83191G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.178C>T
  hgvsp: ENSP00000300778.4:p.Arg60Cys
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83191G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75468G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76479G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75468G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82973G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75468G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75468G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg60Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

11-5443609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443609
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443609
    reference: chr 11
allele count: 12
allele frequency: 9.886796183696674e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.179G>A
  hgvsp: ENSP00000300778.4:p.Arg60His
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76480C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75469C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82972C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75469C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83190C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83190C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75469C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75469C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24699
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37878
  bin: 9.75e1
  variant carriers: 12
hgvs: p.Arg60His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-5443612-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443612
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76483A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75472A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82969A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75472A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75472A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75472A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.182T>A
  hgvsp: ENSP00000300778.4:p.Met61Lys
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83187A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83187A>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24695
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met61Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-5443613-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443613
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443613
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82968C>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83186C>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75473C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75473C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75473C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.183G>T
  hgvsp: ENSP00000300778.4:p.Met61Ile
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76484C>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83186C>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75473C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10710
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24695
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met61Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-5443615-ATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443615
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443613
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83182_-310+83183delGA
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.187_188delCT
  hgvsp: ENSP00000300778.4:p.Leu63ValfsTer30
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83182_-267+83183delGA
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76488_-564-76487delGA
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75477_85-75476delGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75477_46-75476delGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82964_62+82965delGA
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75477_85-75476delGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75477_303-75476delGA
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu63ValfsTer30
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: ATC
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-5443617-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443617
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443617
    reference: chr 11
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75477G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75477G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75477G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76488G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83182G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75477G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82964G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.187C>G
  hgvsp: ENSP00000300778.4:p.Leu63Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83182G>C
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24694
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu63Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP

11-5443625-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443625
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443625
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75485G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83174G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75485G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.195C>G
  hgvsp: ENST00000300778.4:c.195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83174G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75485G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82956G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76496G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75485G>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-5443625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443625
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443625
    reference: chr 11
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76496G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82956G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75485G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75485G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75485G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.195C>T
  hgvsp: ENST00000300778.4:c.195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83174G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83174G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75485G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16622
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37879
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

11-5443629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443629
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443629
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76500T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83170T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75489T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75489T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.199A>G
  hgvsp: ENSP00000300778.4:p.Met67Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82952T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75489T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83170T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75489T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met67Val
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-5443631-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443631
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443631
    reference: chr 11
allele count: 3
allele frequency: 2.472106399459433e-5
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76502C>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82950C>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.201G>T
  hgvsp: ENSP00000300778.4:p.Met67Ile
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75491C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75491C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83168C>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75491C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83168C>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75491C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37880
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16601
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met67Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-5443634-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443634
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443634
    reference: chr 11
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82947C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75494C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83165C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75494C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76505C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.204G>C
  hgvsp: ENST00000300778.4:c.204G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75494C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83165C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75494C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24695
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu68Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/11-5443637-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443637
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443637
    reference: chr 11
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75497G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83162G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83162G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75497G>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.207C>A
  hgvsp: ENST00000300778.4:c.207C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76508G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75497G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75497G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82944G>T
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16411
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala69Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

11-5443640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443640
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443640
    reference: chr 11
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.210G>A
  hgvsp: ENST00000300778.4:c.210G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76511C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82941C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75500C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75500C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83159C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75500C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83159C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75500C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37881
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu70Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-5443642-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443642
    reference: chr 11
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75502G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83157G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76513G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82939G>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83157G>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75502G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.212C>A
  hgvsp: ENSP00000300778.4:p.Thr71Lys
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75502G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75502G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr71Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-5443642-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443642
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443642
    reference: chr 11
allele count: 8
allele frequency: 6.593587735926811e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75502G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75502G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75502G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82939G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83157G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75502G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.212C>T
  hgvsp: ENSP00000300778.4:p.Thr71Met
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83157G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76513G>A
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24696
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr71Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-5443643-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443643
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443643
    reference: chr 11
allele count: 90
allele frequency: 7.416808135414435e-4
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83156C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.213G>A
  hgvsp: ENST00000300778.4:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82938C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75503C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83156C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75503C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76514C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75503C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75503C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24711
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr71Thr
num of homozygotes: 1
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

11-5443648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443648
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443648
    reference: chr 11
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76519A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83151A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75508A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75508A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.218T>C
  hgvsp: ENSP00000300778.4:p.Leu73Pro
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82933A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75508A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83151A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75508A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24687
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu73Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-5443659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443659
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443659
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75519G>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.229C>G
  hgvsp: ENSP00000300778.4:p.Leu77Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75519G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75519G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83140G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75519G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83140G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82922G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76530G>C
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16426
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu77Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-5443661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443661
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443661
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.231C>T
  hgvsp: ENST00000300778.4:c.231C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83138G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75521G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75521G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83138G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75521G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82920G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76532G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75521G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24687
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6738
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu77Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD

11-5443670-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443670
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443670
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83129T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75530T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.240A>G
  hgvsp: ENST00000300778.4:c.240A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82911T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76541T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75530T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83129T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75530T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75530T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24688
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37906
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu80Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-5443680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443680
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443680
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82901T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83119T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76551T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75540T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75540T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.250A>G
  hgvsp: ENSP00000300778.4:p.Met84Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83119T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75540T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75540T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24689
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met84Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-5443681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443681
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443681
    reference: chr 11
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.251T>C
  hgvsp: ENSP00000300778.4:p.Met84Thr
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75541A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76552A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83118A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75541A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82900A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75541A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83118A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75541A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24688
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37921
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met84Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-5443682-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443682
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443682
    reference: chr 11
allele count: 831
allele frequency: 6.846155113608278e-3
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83117C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76553C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75542C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83117C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82899C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.252G>A
  hgvsp: ENSP00000300778.4:p.Met84Ile
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75542C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75542C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75542C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4161
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 8.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 10848
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 9.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 25109
  bin: 9.75e1
  variant carriers: 673
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 8.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 16346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met84Ile
num of homozygotes: 3
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

11-5443685-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443685
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443685
    reference: chr 11
allele count: 75
allele frequency: 6.178433149353325e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.255G>C
  hgvsp: ENSP00000300778.4:p.Gln85His
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82896C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75545C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75545C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83114C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83114C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75545C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75545C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76556C>G
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24720
  bin: 9.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37676
  bin: 9.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln85His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

11-5443689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443689
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443689
    reference: chr 11
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.259C>T
  hgvsp: ENSP00000300778.4:p.Leu87Phe
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83110G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82892G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75549G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75549G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76560G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75549G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75549G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83110G>A
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24708
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 16680
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37688
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu87Phe
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

11-5443700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443700
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443700
    reference: chr 11
allele count: 51672
allele frequency: 4.257114139300368e-1
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75560G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82881G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.270C>T
  hgvsp: ENST00000300778.4:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75560G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75560G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76571G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83099G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75560G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83099G>A
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 8.75e1
  variant carriers: 1790
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 6.25e1
  variant carriers: 1007
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.75e1
  variant carriers: 1311
genotype depth: GenotypeDepth
  all individuals: 26844
  bin: 9.75e1
  variant carriers: 26695
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 5.75e1
  variant carriers: 900
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 5.25e1
  variant carriers: 780
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 666
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 9.25e1
  variant carriers: 1909
genotype depth: GenotypeDepth
  all individuals: 3583
  bin: 3.25e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 2.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 8.25e1
  variant carriers: 1534
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 7.25e1
  variant carriers: 1162
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 980
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 9.25e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 14590
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 4
hgvs: p.Asn90Asn
num of homozygotes: 11796
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

11-5443704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443704
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443704
    reference: chr 11
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82877G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83095G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75564G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83095G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75564G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75564G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75564G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76575G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.274C>T
  hgvsp: ENSP00000300778.4:p.Arg92Cys
  variant of: http://identifiers.org/hgnc/14851
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2309
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg92Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

11-5443705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443705
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443705
    reference: chr 11
allele count: 12
allele frequency: 9.883864591055103e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75565C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75565C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83094C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75565C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.275G>A
  hgvsp: ENSP00000300778.4:p.Arg92His
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83094C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76576C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82876C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75565C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2317
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22315
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg92His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

11-5443721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443721
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443721
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83078C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82860C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76592C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75581C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75581C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83078C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75581C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.291G>A
  hgvsp: ENST00000300778.4:c.291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75581C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41220
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu97Glu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

11-5443722-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443722
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443722
    reference: chr 11
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75582C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.292G>A
  hgvsp: ENSP00000300778.4:p.Ala98Thr
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76593C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83077C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75582C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83077C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82859C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75582C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75582C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.75e1
  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: 1457
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22312
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala98Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-5443730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443730
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443730
    reference: chr 11
allele count: 120
allele frequency: 9.883864591055103e-4
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75590A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82851A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83069A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75590A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83069A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75590A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.300T>C
  hgvsp: ENST00000300778.4:c.300T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75590A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76601A>G
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 22321
  bin: 9.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe100Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

11-5443734-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443734
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443734
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83065G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75594G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75594G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83065G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75594G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82847G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76605G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.304C>G
  hgvsp: ENSP00000300778.4:p.Gln102Glu
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75594G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln102Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-5443737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443737
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443737
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82844A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75597A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.307T>C
  hgvsp: ENSP00000300778.4:p.Phe103Leu
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83062A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75597A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75597A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83062A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75597A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76608A>G
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe103Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

11-5443737-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443737
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443737
    reference: chr 11
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.307T>G
  hgvsp: ENSP00000300778.4:p.Phe103Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82844A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83062A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83062A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75597A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75597A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76608A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75597A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75597A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41222
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Phe103Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

11-5443738-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443738
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443738
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76609A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75598A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82843A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.308T>A
  hgvsp: ENSP00000300778.4:p.Phe103Tyr
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75598A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83061A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83061A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75598A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75598A>T
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe103Tyr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-5443739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443739
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443739
    reference: chr 11
allele count: 51644
allele frequency: 4.254737188993244e-1
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82842A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75599A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83060A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75599A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.309T>C
  hgvsp: ENST00000300778.4:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76610A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83060A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75599A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75599A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 4.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 8.25e1
  variant carriers: 1774
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 9.25e1
  variant carriers: 2148
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 958
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 1473
genotype depth: GenotypeDepth
  all individuals: 28186
  bin: 9.75e1
  variant carriers: 28033
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 5.25e1
  variant carriers: 425
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 7.25e1
  variant carriers: 1229
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 5.75e1
  variant carriers: 536
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 8.75e1
  variant carriers: 1925
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.25e1
  variant carriers: 729
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe103Phe
num of homozygotes: 11784
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-5443740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443740
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443740
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83059A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76611A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83059A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75600A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82841A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.310T>G
  hgvsp: ENSP00000300778.4:p.Phe104Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75600A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75600A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75600A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe104Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

11-5443748-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443748
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443748
    reference: chr 11
allele count: 4
allele frequency: 3.294567258590584e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75608A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83051A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83051A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75608A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76619A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.318T>C
  hgvsp: ENST00000300778.4:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75608A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82833A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75608A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41378
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Leu106Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

11-5443764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443764
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443764
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83035T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83035T>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75624T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75624T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75624T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.334A>G
  hgvsp: ENSP00000300778.4:p.Met112Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76635T>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75624T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82817T>C
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met112Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

11-5443765-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443765
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443765
    reference: chr 11
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76636A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75625A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75625A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82816A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83034A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83034A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.335T>A
  hgvsp: ENSP00000300778.4:p.Met112Lys
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75625A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75625A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41380
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met112Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-5443765-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443765
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443765
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75625A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75625A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76636A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.335T>G
  hgvsp: ENSP00000300778.4:p.Met112Arg
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82816A>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75625A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83034A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83034A>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75625A>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met112Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

11-5443774-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443774
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443774
    reference: chr 11
allele count: 7
allele frequency: 5.765587678115476e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75634G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83025G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75634G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83025G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.344C>G
  hgvsp: ENSP00000300778.4:p.Ser115Cys
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75634G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82807G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76645G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75634G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27327
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser115Cys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-5443774-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443774
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443774
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83025G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.344C>T
  hgvsp: ENSP00000300778.4:p.Ser115Phe
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75634G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82807G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83025G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75634G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76645G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75634G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75634G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser115Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

11-5443777-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443777
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443777
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76648A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75637A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82804A>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.347T>A
  hgvsp: ENSP00000300778.4:p.Val116Asp
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83022A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83022A>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75637A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75637A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75637A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val116Asp
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-5443778-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443778
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75638G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76649G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75638G>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.348C>G
  hgvsp: ENST00000300778.4:c.348C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75638G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83021G>C
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82803G>C
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75638G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83021G>C
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27327
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val116Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

11-5443778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443778
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82803G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83021G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75638G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76649G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83021G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.348C>T
  hgvsp: ENST00000300778.4:c.348C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75638G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75638G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75638G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27327
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val116Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

11-5443779-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443779
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443779
    reference: chr 11
allele count: 2
allele frequency: 1.647283629295292e-5
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76650G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.349C>T
  hgvsp: ENSP00000300778.4:p.Leu117Phe
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75639G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82802G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83020G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83020G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75639G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75639G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75639G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27329
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu117Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

11-5443785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443785
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443785
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75645C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75645C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76656C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83014C>T
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82796C>T
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.355G>A
  hgvsp: ENSP00000300778.4:p.Ala119Thr
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75645C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75645C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83014C>T
  variant of: http://identifiers.org/hgnc/4830
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala119Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

11-5443786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443786
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443786
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.356C>T
  hgvsp: ENSP00000300778.4:p.Ala119Val
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83013G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76657G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82795G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75646G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75646G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75646G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83013G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75646G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala119Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

11-5443787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443787
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443787
    reference: chr 11
allele count: 3
allele frequency: 2.470925443942938e-5
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75647A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82794A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75647A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83012A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83012A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.357T>C
  hgvsp: ENST00000300778.4:c.357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76658A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75647A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75647A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27331
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala119Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

11-5443790-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443790
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443790
    reference: chr 11
allele count: 14
allele frequency: 1.153117535623095e-4
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75650C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75650C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76661C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.360G>C
  hgvsp: ENSP00000300778.4:p.Met120Ile
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75650C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83009C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83009C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82791C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75650C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27331
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met120Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

11-5443793-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443793
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443793
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+83006G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76664G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75653G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75653G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+83006G>A
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75653G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82788G>A
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.363C>T
  hgvsp: ENST00000300778.4:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75653G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser121Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-5443800-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443800
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443800
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75660A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+82999A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.370T>C
  hgvsp: ENSP00000300778.4:p.Cys124Arg
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75660A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75660A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82781A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75660A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+82999A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76671A>G
  variant of: http://identifiers.org/hgnc/4832
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14682
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Cys124Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

11-5443801-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443801
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443801
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75661C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75661C>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75661C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82780C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.371G>C
  hgvsp: ENSP00000300778.4:p.Cys124Ser
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+82998C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76672C>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+82998C>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75661C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14682
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys124Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

11-5443803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 5443803
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 5443803
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000369586
  ensembl transcript: ENST00000380237
  gene symbol: HBE1
  hgvsc: ENST00000380237.1:c.-310+82996A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000418729
  gene symbol: AC104389.28
  hgvsc: ENST00000418729.1:n.85-75663A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000213931
  ensembl protein: ENSP00000380104
  ensembl transcript: ENST00000396895
  gene symbol: HBE1
  hgvsc: ENST00000396895.1:c.-267+82996A>G
  variant of: http://identifiers.org/hgnc/4830
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369609
  ensembl transcript: ENST00000380259
  gene symbol: HBG2
  hgvsc: ENST00000380259.2:c.-564-76674A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420726
  gene symbol: AC104389.28
  hgvsc: ENST00000420726.1:n.303-75663A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000196565
  ensembl protein: ENSP00000369602
  ensembl transcript: ENST00000380252
  gene symbol: HBG2
  hgvsc: ENST00000380252.1:c.62+82778A>G
  variant of: http://identifiers.org/hgnc/4832
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167360
  ensembl protein: ENSP00000300778
  ensembl transcript: ENST00000300778
  gene symbol: OR51Q1
  hgvsc: ENST00000300778.4:c.373T>C
  hgvsp: ENSP00000300778.4:p.Tyr125His
  variant of: http://identifiers.org/hgnc/14851
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000415970
  gene symbol: AC104389.28
  hgvsc: ENST00000415970.1:n.85-75663A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167355
  ensembl transcript: ENST00000420465
  gene symbol: AC104389.28
  hgvsc: ENST00000420465.1:n.46-75663A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1971
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr125His
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 37882
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2848
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 1

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

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

DP
type: SiteQuality
SIO_000300: 4.770249e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.215e0

QD
type: SiteQuality
SIO_000300: 1.57e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

GenotypeQuality
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2848
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37881
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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
allele num: 908
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.853e0

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

FS
type: SiteQuality
SIO_000300: 1.755e0

DP
type: SiteQuality
SIO_000300: 4.770172e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2847
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17054
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

FS
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SIO_000300: 5.2e-1

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

African
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allele frequency: 0.0e0
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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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num of homozygotes: 0

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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FS
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DP
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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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European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

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

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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DP
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 7.46e-1

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

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

African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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South Asian
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.961e1

VQSLOD
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FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele num: 8654
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South Asian
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African
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Latino
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Other
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

Other
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African
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allele frequency: 9.609840476648087e-5
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East Asian
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South Asian
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European (Finnish)
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DP
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 1.816860465116279e-4
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European (Non-Finnish)
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allele num: 66730
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European (Finnish)
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East Asian
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Latino
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Other
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African
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DP
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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DP
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FS
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66726
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African
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allele num: 10406
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South Asian
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East Asian
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Latino
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Other
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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South Asian
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FS
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VQSLOD
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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allele num: 66718
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South Asian
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Latino
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Other
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European (Finnish)
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MQ
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QD
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FS
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InbreedingCoeff
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele num: 6614
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African
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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VQSLOD
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ClippingRankSum
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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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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66718
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African
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Latino
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allele num: 11578
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South Asian
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Other
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East Asian
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European (Finnish)
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FS
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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MQRankSum
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DP
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BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Other
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East Asian
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European (Non-Finnish)
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European (Finnish)
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VQSLOD
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QD
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

InbreedingCoeff
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BaseQRankSum
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SIO_000300: -3.65e-1

MQ
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SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

FS
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SIO_000300: 3.079e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

MQRankSum
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SIO_000300: 1.3e0

QD
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SIO_000300: 1.371e1

DP
type: SiteQuality
SIO_000300: 4.768602e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

DP
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SIO_000300: 4.769277e6

InbreedingCoeff
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SIO_000300: 3.0e-4

BaseQRankSum
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SIO_000300: -4.274e0

FS
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SIO_000300: 5.54e-1

ClippingRankSum
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SIO_000300: 4.96e-1

MQ
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: 3.71e-1

GenotypeQuality
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variant carriers: 0

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

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

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

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

South Asian
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allele num: 16486
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
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allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 5.54e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
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DP
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SIO_000300: 4.769165e6

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
allele num: 908
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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

FS
type: SiteQuality
SIO_000300: 5.44e-1

DP
type: SiteQuality
SIO_000300: 4.769655e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.821051353648173e-4
allele num: 16474
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199292417473691e-4
allele num: 66706
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

DP
type: SiteQuality
SIO_000300: 4.771379e6

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.07e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 882
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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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variant carriers: 89

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
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GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
type: Population
allele count: 85
allele frequency: 8.168364405150874e-3
allele num: 10406
num of homozygotes: 1

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: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 5.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

QD
type: SiteQuality
SIO_000300: 1.411e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.5e-3

DP
type: SiteQuality
SIO_000300: 4.773918e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 37885
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

QD
type: SiteQuality
SIO_000300: 1.62e1

DP
type: SiteQuality
SIO_000300: 4.77084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.179e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

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
all individuals: 31
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GenotypeQuality
all individuals: 294
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.0251e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 4.77237e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.636e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.76e0

GenotypeQuality
all individuals: 37895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.292e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 4.772507e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.637e1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 36
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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
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 16498
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.913e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.460000000000001e0

DP
type: SiteQuality
SIO_000300: 4.774209e6

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

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

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 4.775633e6

VQSLOD
type: SiteQuality
SIO_000300: 7.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.499e1

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 20
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 469
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GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 4.775681e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.528e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

FS
type: SiteQuality
SIO_000300: 6.681e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
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GenotypeQuality
all individuals: 12
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GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 13
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 38116
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variant carriers: 828

GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 856
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 28
allele frequency: 2.690755333461465e-3
allele num: 10406
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 25
allele frequency: 3.779860901118839e-3
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 686
allele frequency: 1.028146638290219e-2
allele num: 66722
num of homozygotes: 3

Latino
type: Population
allele count: 24
allele frequency: 2.073255010366275e-3
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 66
allele frequency: 3.999030538051382e-3
allele num: 16504
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 4.821185e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.662e0

VQSLOD
type: SiteQuality
SIO_000300: 5.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

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

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 983
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GenotypeQuality
all individuals: 16683
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GenotypeQuality
all individuals: 17
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GenotypeQuality
all individuals: 435
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

African
type: Population
allele count: 65
allele frequency: 6.246396309821257e-3
allele num: 10406
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

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.77336327517706e-4
allele num: 11578
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.08e0

DP
type: SiteQuality
SIO_000300: 4.77395e6

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.928e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

QD
type: SiteQuality
SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.2e-2

DP
type: SiteQuality
SIO_000300: 4.772545e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.74e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 8.75e1
variant carriers: 21

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 531
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 41713
bin: 9.75e1
variant carriers: 39705

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 22

GenotypeQuality
all individuals: 402
bin: 8.25e1
variant carriers: 27

European (Finnish)
type: Population
allele count: 2529
allele frequency: 3.82486388384755e-1
allele num: 6612
num of homozygotes: 506

Other
type: Population
allele count: 379
allele frequency: 4.174008810572687e-1
allele num: 908
num of homozygotes: 82

African
type: Population
allele count: 3010
allele frequency: 2.893118031526336e-1
allele num: 10404
num of homozygotes: 444

South Asian
type: Population
allele count: 8622
allele frequency: 5.221656976744186e-1
allele num: 16512
num of homozygotes: 2262

Latino
type: Population
allele count: 4867
allele frequency: 4.209479328835842e-1
allele num: 11562
num of homozygotes: 1037

European (Non-Finnish)
type: Population
allele count: 25984
allele frequency: 3.89366739593011e-1
allele num: 66734
num of homozygotes: 5171

East Asian
type: Population
allele count: 6281
allele frequency: 7.264631043256997e-1
allele num: 8646
num of homozygotes: 2294

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.94e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.988e1

DP
type: SiteQuality
SIO_000300: 5.143616e6

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
all individuals: 41220
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 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: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.874e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.461e0

DP
type: SiteQuality
SIO_000300: 4.748536e6

QD
type: SiteQuality
SIO_000300: 1.422e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.713e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 687
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
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variant carriers: 0

GenotypeQuality
all individuals: 41228
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 467
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
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

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

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.95e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

DP
type: SiteQuality
SIO_000300: 4.748932e6

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 1.636e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 4.748609e6

QD
type: SiteQuality
SIO_000300: 1.504e1

FS
type: SiteQuality
SIO_000300: 2.076e0

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.152e0

GenotypeQuality
all individuals: 14664
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
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GenotypeQuality
all individuals: 2329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
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GenotypeQuality
all individuals: 41220
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 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: 1.4983967155144e-5
allele num: 66738
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
allele num: 908
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.296e1

FS
type: SiteQuality
SIO_000300: 2.286e0

DP
type: SiteQuality
SIO_000300: 4.74865e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.033e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.06e-1

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

GenotypeQuality
all individuals: 2327
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41224
bin: 9.75e1
variant carriers: 120

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.326277592984578e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 88
allele frequency: 1.318589109652672e-3
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.804920238324044e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.318535152876144e-4
allele num: 11578
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 4.749644e6

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 1.74e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 500
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GenotypeQuality
all individuals: 246
bin: 8.75e1
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GenotypeQuality
all individuals: 2328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

DP
type: SiteQuality
SIO_000300: 4.749469e6

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 3.684e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 3.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.126e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41222
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 690
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 4.749501e6

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

QD
type: SiteQuality
SIO_000300: 1.486e1

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 7.54e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

DP
type: SiteQuality
SIO_000300: 4.749501e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 500
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variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.37e1

DP
type: SiteQuality
SIO_000300: 4.749505e6

VQSLOD
type: SiteQuality
SIO_000300: -2.07e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.547e0

QD
type: SiteQuality
SIO_000300: 2.039e1

FS
type: SiteQuality
SIO_000300: 6.3265e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.446e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

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

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14595
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 591
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41812
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variant carriers: 39807

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2269
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variant carriers: 5

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

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 6

GenotypeQuality
all individuals: 12
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variant carriers: 3

GenotypeQuality
all individuals: 298
bin: 9.25e1
variant carriers: 8

GenotypeQuality
all individuals: 386
bin: 8.25e1
variant carriers: 15

South Asian
type: Population
allele count: 8622
allele frequency: 5.22228952150212e-1
allele num: 16510
num of homozygotes: 2262

African
type: Population
allele count: 3008
allele frequency: 2.890640015375745e-1
allele num: 10406
num of homozygotes: 443

East Asian
type: Population
allele count: 6281
allele frequency: 7.264631043256997e-1
allele num: 8646
num of homozygotes: 2294

European (Non-Finnish)
type: Population
allele count: 25963
allele frequency: 3.89098702155082e-1
allele num: 66726
num of homozygotes: 5161

Latino
type: Population
allele count: 4862
allele frequency: 4.202247191011236e-1
allele num: 11570
num of homozygotes: 1036

European (Finnish)
type: Population
allele count: 2529
allele frequency: 3.823707287571818e-1
allele num: 6614
num of homozygotes: 506

Other
type: Population
allele count: 379
allele frequency: 4.174008810572687e-1
allele num: 908
num of homozygotes: 82

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 2.141e1

FS
type: SiteQuality
SIO_000300: 5.38e-1

DP
type: SiteQuality
SIO_000300: 5.289656e6

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.97e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.72e-1

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

GenotypeQuality
all individuals: 41376
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2328
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variant carriers: 0

GenotypeQuality
all individuals: 446
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variant carriers: 0

GenotypeQuality
all individuals: 572
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.907e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.29e1

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 5.213482e6

GenotypeQuality
all individuals: 573
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 2330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 14678
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.993407252022775e-5
allele num: 66740
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.006e0

DP
type: SiteQuality
SIO_000300: 5.213497e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.517e0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

QD
type: SiteQuality
SIO_000300: 1.346e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 41379
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14674
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 66740
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.61e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.89e-1

FS
type: SiteQuality
SIO_000300: 2.151e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.213431e6

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2329
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591121091725686e-4
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

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

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

DP
type: SiteQuality
SIO_000300: 5.213523e6

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.446e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.541e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 14674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 5.213523e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
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SIO_000300: 1.0e-4

VQSLOD
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SIO_000300: -3.446e-1

ClippingRankSum
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SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
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SIO_000300: 1.541e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
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allele count: 7
allele frequency: 6.726888333653661e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.213878e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 5.937e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

European (Finnish)
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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: 11578
num of homozygotes: 0

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

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

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

InbreedingCoeff
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MQ
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BaseQRankSum
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SIO_000300: -7.19e-1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 5.213878e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQRankSum
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SIO_000300: 1.43e0

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 2.421e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.213959e6

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2375e1

MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.945e1

ReadPosRankSum
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SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

DP
type: SiteQuality
SIO_000300: 5.214019e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
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FS
type: SiteQuality
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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BaseQRankSum
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QD
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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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variant carriers: 2

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: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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Other
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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Latino
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BaseQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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ReadPosRankSum
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FS
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66740
num of homozygotes: 0

East Asian
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Latino
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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InbreedingCoeff
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VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 5.214592e6

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

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

GenotypeQuality
all individuals: 444
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41382
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

African
type: Population
allele count: 14
allele frequency: 1.34563629373318e-3
allele num: 10404
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
allele num: 908
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.454e1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 5.215246e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.88e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

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

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

GenotypeQuality
all individuals: 41372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 5.213439e6

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

FS
type: SiteQuality
SIO_000300: 3.611e0

QD
type: SiteQuality
SIO_000300: 1.342e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 41371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 5.2136e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.589e0

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.45e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 446
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41370
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.721e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.902e1

DP
type: SiteQuality
SIO_000300: 5.213462e6

VQSLOD
type: SiteQuality
SIO_000300: -8.778e-1

FS
type: SiteQuality
SIO_000300: 2.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.918e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1