11-6416787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416787
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416787
    reference: chr 11
allele count: 3
allele frequency: 3.852772712095138e-5
allele num: 77866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1333C>T
  hgvsp: ENSP00000476646.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2104C>T
  hgvsp: ENSP00000311912.3:p.Arg702Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1059C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1450C>T
  hgvsp: ENSP00000476846.1:p.Arg484Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1333C>T
  hgvsp: ENSP00000476442.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.685C>T
  hgvsp: ENSP00000477022.1:p.Arg229Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1405C>T
  hgvsp: ENSP00000477069.1:p.Arg469Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2104C>T
  hgvsp: ENSP00000299402.6:p.Arg702Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2110C>T
  hgvsp: ENSP00000477213.1:p.Arg704Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1444C>T
  hgvsp: ENSP00000433338.1:p.Arg482Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+229C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1333C>T
  hgvsp: ENSP00000476871.1:p.Arg445Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2110C>T
  hgvsp: ENSP00000374556.2:p.Arg704Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.797C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19568
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg702Trp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

11-6416812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416812
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416812
    reference: chr 11
allele count: 1
allele frequency: 1.157943492357573e-5
allele num: 86360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2085G>A
  hgvsp: ENST00000389906.2:c.2085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1308G>A
  hgvsp: ENST00000608704.1:c.1308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2085G>A
  hgvsp: ENST00000609360.1:c.2085G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2079G>A
  hgvsp: ENST00000299402.6:c.2079G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1419G>A
  hgvsp: ENST00000530885.1:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1425G>A
  hgvsp: ENST00000608655.1:c.1425G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1308G>A
  hgvsp: ENST00000608394.1:c.1308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.772G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2079G>A
  hgvsp: ENST00000311051.3:c.2079G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.660G>A
  hgvsp: ENST00000529519.1:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+204G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1034G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1308G>A
  hgvsp: ENST00000608645.1:c.1308G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1380G>A
  hgvsp: ENST00000609331.1:c.1380G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser693Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

11-6416813-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416813
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416813
    reference: chr 11
allele count: 1
allele frequency: 1.145160551509322e-5
allele num: 87324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1307C>T
  hgvsp: ENSP00000476442.1:p.Ser436Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+203C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2084C>T
  hgvsp: ENSP00000477213.1:p.Ser695Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2078C>T
  hgvsp: ENSP00000299402.6:p.Ser693Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1033C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2078C>T
  hgvsp: ENSP00000311912.3:p.Ser693Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1307C>T
  hgvsp: ENSP00000476871.1:p.Ser436Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1379C>T
  hgvsp: ENSP00000477069.1:p.Ser460Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1307C>T
  hgvsp: ENSP00000476646.1:p.Ser436Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.659C>T
  hgvsp: ENSP00000477022.1:p.Ser220Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.771C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1424C>T
  hgvsp: ENSP00000476846.1:p.Ser475Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1418C>T
  hgvsp: ENSP00000433338.1:p.Ser473Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2084C>T
  hgvsp: ENSP00000374556.2:p.Ser695Leu
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser693Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-6416815-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416815
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416815
    reference: chr 11
allele count: 1
allele frequency: 1.135383078250602e-5
allele num: 88076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2082G>T
  hgvsp: ENSP00000477213.1:p.Gln694His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.769G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1377G>T
  hgvsp: ENSP00000477069.1:p.Gln459His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2076G>T
  hgvsp: ENSP00000299402.6:p.Gln692His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.657G>T
  hgvsp: ENSP00000477022.1:p.Gln219His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+201G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1305G>T
  hgvsp: ENSP00000476442.1:p.Gln435His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1031G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1416G>T
  hgvsp: ENSP00000433338.1:p.Gln472His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2076G>T
  hgvsp: ENSP00000311912.3:p.Gln692His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1305G>T
  hgvsp: ENSP00000476871.1:p.Gln435His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1422G>T
  hgvsp: ENSP00000476846.1:p.Gln474His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1305G>T
  hgvsp: ENSP00000476646.1:p.Gln435His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2082G>T
  hgvsp: ENSP00000374556.2:p.Gln694His
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21471
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln692His
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/11-6416822-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416822
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416822
    reference: chr 11
allele count: 1
allele frequency: 1.104801467176348e-5
allele num: 90514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.650G>T
  hgvsp: ENSP00000477022.1:p.Gly217Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2075G>T
  hgvsp: ENSP00000374556.2:p.Gly692Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1298G>T
  hgvsp: ENSP00000476871.1:p.Gly433Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1298G>T
  hgvsp: ENSP00000476442.1:p.Gly433Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2075G>T
  hgvsp: ENSP00000477213.1:p.Gly692Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2069G>T
  hgvsp: ENSP00000311912.3:p.Gly690Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+194G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1298G>T
  hgvsp: ENSP00000476646.1:p.Gly433Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1415G>T
  hgvsp: ENSP00000476846.1:p.Gly472Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2069G>T
  hgvsp: ENSP00000299402.6:p.Gly690Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1370G>T
  hgvsp: ENSP00000477069.1:p.Gly457Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.762G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1024G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1409G>T
  hgvsp: ENSP00000433338.1:p.Gly470Val
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22398
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4676
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly690Val
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

11-6416827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416827
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416827
    reference: chr 11
allele count: 1
allele frequency: 1.081408426334458e-5
allele num: 92472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1293C>T
  hgvsp: ENST00000608394.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1410C>T
  hgvsp: ENST00000608655.1:c.1410C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2064C>T
  hgvsp: ENST00000299402.6:c.2064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2070C>T
  hgvsp: ENST00000389906.2:c.2070C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2070C>T
  hgvsp: ENST00000609360.1:c.2070C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1404C>T
  hgvsp: ENST00000530885.1:c.1404C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1293C>T
  hgvsp: ENST00000608645.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+189C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1293C>T
  hgvsp: ENST00000608704.1:c.1293C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2064C>T
  hgvsp: ENST00000311051.3:c.2064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.645C>T
  hgvsp: ENST00000529519.1:c.645C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.757C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1019C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1365C>T
  hgvsp: ENST00000609331.1:c.1365C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13456
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg688Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

11-6416834-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416834
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416834
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 95746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2063C>G
  hgvsp: ENSP00000477213.1:p.Thr688Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1012C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1397C>G
  hgvsp: ENSP00000433338.1:p.Thr466Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1286C>G
  hgvsp: ENSP00000476442.1:p.Thr429Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1403C>G
  hgvsp: ENSP00000476846.1:p.Thr468Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2063C>G
  hgvsp: ENSP00000374556.2:p.Thr688Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+182C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.638C>G
  hgvsp: ENSP00000477022.1:p.Thr213Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1358C>G
  hgvsp: ENSP00000477069.1:p.Thr453Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2057C>G
  hgvsp: ENSP00000299402.6:p.Thr686Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2057C>G
  hgvsp: ENSP00000311912.3:p.Thr686Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1286C>G
  hgvsp: ENSP00000476646.1:p.Thr429Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1286C>G
  hgvsp: ENSP00000476871.1:p.Thr429Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.750C>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11929
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr686Ser
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: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

11-6416839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416839
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416839
    reference: chr 11
allele count: 1
allele frequency: 1.028700750951548e-5
allele num: 97210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+177G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2058G>A
  hgvsp: ENST00000389906.2:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1398G>A
  hgvsp: ENST00000608655.1:c.1398G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1281G>A
  hgvsp: ENST00000608645.1:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2052G>A
  hgvsp: ENST00000311051.3:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1281G>A
  hgvsp: ENST00000608394.1:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2058G>A
  hgvsp: ENST00000609360.1:c.2058G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1007G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2052G>A
  hgvsp: ENST00000299402.6:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.633G>A
  hgvsp: ENST00000529519.1:c.633G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1353G>A
  hgvsp: ENST00000609331.1:c.1353G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1392G>A
  hgvsp: ENST00000530885.1:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.745G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1281G>A
  hgvsp: ENST00000608704.1:c.1281G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly684Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

11-6416841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416841
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416841
    reference: chr 11
allele count: 1
allele frequency: 1.021680050675331e-5
allele num: 97878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1390G>A
  hgvsp: ENSP00000433338.1:p.Gly464Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2056G>A
  hgvsp: ENSP00000374556.2:p.Gly686Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.743G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1005G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1279G>A
  hgvsp: ENSP00000476646.1:p.Gly427Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.631G>A
  hgvsp: ENSP00000477022.1:p.Gly211Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1279G>A
  hgvsp: ENSP00000476442.1:p.Gly427Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1279G>A
  hgvsp: ENSP00000476871.1:p.Gly427Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1396G>A
  hgvsp: ENSP00000476846.1:p.Gly466Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+175G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1351G>A
  hgvsp: ENSP00000477069.1:p.Gly451Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2050G>A
  hgvsp: ENSP00000311912.3:p.Gly684Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2050G>A
  hgvsp: ENSP00000299402.6:p.Gly684Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2056G>A
  hgvsp: ENSP00000477213.1:p.Gly686Arg
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly684Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-6416844-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416844
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416844
    reference: chr 11
allele count: 1
allele frequency: 1.015228426395939e-5
allele num: 98500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2053G>C
  hgvsp: ENSP00000477213.1:p.Val685Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1387G>C
  hgvsp: ENSP00000433338.1:p.Val463Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.740G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1276G>C
  hgvsp: ENSP00000476871.1:p.Val426Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2053G>C
  hgvsp: ENSP00000374556.2:p.Val685Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2047G>C
  hgvsp: ENSP00000299402.6:p.Val683Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2047G>C
  hgvsp: ENSP00000311912.3:p.Val683Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1393G>C
  hgvsp: ENSP00000476846.1:p.Val465Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.628G>C
  hgvsp: ENSP00000477022.1:p.Val210Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1348G>C
  hgvsp: ENSP00000477069.1:p.Val450Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+172G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1276G>C
  hgvsp: ENSP00000476646.1:p.Val426Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.1002G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1276G>C
  hgvsp: ENSP00000476442.1:p.Val426Leu
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val683Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-6416849-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416849
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416849
    reference: chr 11
allele count: 4
allele frequency: 3.97558987814817e-5
allele num: 100614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.735G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+167G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2048G>A
  hgvsp: ENSP00000374556.2:p.Arg683Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1271G>A
  hgvsp: ENSP00000476871.1:p.Arg424Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.997G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1388G>A
  hgvsp: ENSP00000476846.1:p.Arg463Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1271G>A
  hgvsp: ENSP00000476646.1:p.Arg424Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.623G>A
  hgvsp: ENSP00000477022.1:p.Arg208Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2042G>A
  hgvsp: ENSP00000311912.3:p.Arg681Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1343G>A
  hgvsp: ENSP00000477069.1:p.Arg448Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1382G>A
  hgvsp: ENSP00000433338.1:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1271G>A
  hgvsp: ENSP00000476442.1:p.Arg424Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2042G>A
  hgvsp: ENSP00000299402.6:p.Arg681Gln
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2048G>A
  hgvsp: ENSP00000477213.1:p.Arg683Gln
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg681Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-6416850-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416850
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416850
    reference: chr 11
allele count: 61
allele frequency: 6.026119771600181e-4
allele num: 101226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.996C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1270C>T
  hgvsp: ENSP00000476646.1:p.Arg424Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1270C>T
  hgvsp: ENSP00000476442.1:p.Arg424Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1342C>T
  hgvsp: ENSP00000477069.1:p.Arg448Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1270C>T
  hgvsp: ENSP00000476871.1:p.Arg424Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.734C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1387C>T
  hgvsp: ENSP00000476846.1:p.Arg463Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1381C>T
  hgvsp: ENSP00000433338.1:p.Arg461Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2047C>T
  hgvsp: ENSP00000374556.2:p.Arg683Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.622C>T
  hgvsp: ENSP00000477022.1:p.Arg208Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2047C>T
  hgvsp: ENSP00000477213.1:p.Arg683Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2041C>T
  hgvsp: ENSP00000299402.6:p.Arg681Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+166C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2041C>T
  hgvsp: ENSP00000311912.3:p.Arg681Trp
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26843
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg681Trp
num of homozygotes: 2
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

11-6416857-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416857
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416857
    reference: chr 11
allele count: 4
allele frequency: 3.864808981816073e-5
allele num: 103498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1263T>C
  hgvsp: ENST00000608394.1:c.1263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2034T>C
  hgvsp: ENST00000299402.6:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.727T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1263T>C
  hgvsp: ENST00000608704.1:c.1263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.615T>C
  hgvsp: ENST00000529519.1:c.615T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1263T>C
  hgvsp: ENST00000608645.1:c.1263T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2034T>C
  hgvsp: ENST00000311051.3:c.2034T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.989T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1374T>C
  hgvsp: ENST00000530885.1:c.1374T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+159T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1380T>C
  hgvsp: ENST00000608655.1:c.1380T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1335T>C
  hgvsp: ENST00000609331.1:c.1335T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2040T>C
  hgvsp: ENST00000609360.1:c.2040T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2040T>C
  hgvsp: ENST00000389906.2:c.2040T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27660
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4958
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser678Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff

11-6416862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416862
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416862
    reference: chr 11
allele count: 1
allele frequency: 9.56791304680623e-6
allele num: 104516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1330G>A
  hgvsp: ENSP00000477069.1:p.Glu444Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2035G>A
  hgvsp: ENSP00000374556.2:p.Glu679Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.722G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.610G>A
  hgvsp: ENSP00000477022.1:p.Glu204Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1375G>A
  hgvsp: ENSP00000476846.1:p.Glu459Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1258G>A
  hgvsp: ENSP00000476646.1:p.Glu420Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1258G>A
  hgvsp: ENSP00000476871.1:p.Glu420Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2035G>A
  hgvsp: ENSP00000477213.1:p.Glu679Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2029G>A
  hgvsp: ENSP00000299402.6:p.Glu677Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2029G>A
  hgvsp: ENSP00000311912.3:p.Glu677Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1369G>A
  hgvsp: ENSP00000433338.1:p.Glu457Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1258G>A
  hgvsp: ENSP00000476442.1:p.Glu420Lys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.984G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+154G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu677Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-6416863-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416863
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416863
    reference: chr 11
allele count: 2
allele frequency: 1.908797648361297e-5
allele num: 104778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.721T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2034T>G
  hgvsp: ENST00000609360.1:c.2034T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2028T>G
  hgvsp: ENST00000299402.6:c.2028T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1368T>G
  hgvsp: ENST00000530885.1:c.1368T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.609T>G
  hgvsp: ENST00000529519.1:c.609T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1257T>G
  hgvsp: ENST00000608394.1:c.1257T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2034T>G
  hgvsp: ENST00000389906.2:c.2034T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1257T>G
  hgvsp: ENST00000608645.1:c.1257T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1257T>G
  hgvsp: ENST00000608704.1:c.1257T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2028T>G
  hgvsp: ENST00000311051.3:c.2028T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+153T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1374T>G
  hgvsp: ENST00000608655.1:c.1374T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.983T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1329T>G
  hgvsp: ENST00000609331.1:c.1329T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala676Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

11-6416868-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416868
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416868
    reference: chr 11
allele count: 1
allele frequency: 9.461095973357553e-6
allele num: 105696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1252C>G
  hgvsp: ENSP00000476871.1:p.Pro418Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2029C>G
  hgvsp: ENSP00000477213.1:p.Pro677Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.604C>G
  hgvsp: ENSP00000477022.1:p.Pro202Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.978C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1369C>G
  hgvsp: ENSP00000476846.1:p.Pro457Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1252C>G
  hgvsp: ENSP00000476646.1:p.Pro418Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1324C>G
  hgvsp: ENSP00000477069.1:p.Pro442Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2023C>G
  hgvsp: ENSP00000311912.3:p.Pro675Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1363C>G
  hgvsp: ENSP00000433338.1:p.Pro455Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.716C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1252C>G
  hgvsp: ENSP00000476442.1:p.Pro418Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2023C>G
  hgvsp: ENSP00000299402.6:p.Pro675Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2029C>G
  hgvsp: ENSP00000374556.2:p.Pro677Ala
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+148C>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro675Ala
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

11-6416869-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416869
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416869
    reference: chr 11
allele count: 1
allele frequency: 9.444654325651682e-6
allele num: 105880
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2028C>G
  hgvsp: ENST00000389906.2:c.2028C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1251C>G
  hgvsp: ENST00000608394.1:c.1251C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2022C>G
  hgvsp: ENST00000311051.3:c.2022C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2022C>G
  hgvsp: ENST00000299402.6:c.2022C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1251C>G
  hgvsp: ENST00000608704.1:c.1251C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.603C>G
  hgvsp: ENST00000529519.1:c.603C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1251C>G
  hgvsp: ENST00000608645.1:c.1251C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1323C>G
  hgvsp: ENST00000609331.1:c.1323C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+147C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1362C>G
  hgvsp: ENST00000530885.1:c.1362C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1368C>G
  hgvsp: ENST00000608655.1:c.1368C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2028C>G
  hgvsp: ENST00000609360.1:c.2028C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.977C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.715C>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro674Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-6416871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416871
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416871
    reference: chr 11
allele count: 1
allele frequency: 9.418856550814731e-6
allele num: 106170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1360C>T
  hgvsp: ENSP00000433338.1:p.Pro454Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2020C>T
  hgvsp: ENSP00000299402.6:p.Pro674Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.601C>T
  hgvsp: ENSP00000477022.1:p.Pro201Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1366C>T
  hgvsp: ENSP00000476846.1:p.Pro456Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1249C>T
  hgvsp: ENSP00000476646.1:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2026C>T
  hgvsp: ENSP00000477213.1:p.Pro676Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1321C>T
  hgvsp: ENSP00000477069.1:p.Pro441Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.713C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1249C>T
  hgvsp: ENSP00000476442.1:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1249C>T
  hgvsp: ENSP00000476871.1:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+145C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2020C>T
  hgvsp: ENSP00000311912.3:p.Pro674Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2026C>T
  hgvsp: ENSP00000374556.2:p.Pro676Ser
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.975C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12116
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro674Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-6416876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416876
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416876
    reference: chr 11
allele count: 1
allele frequency: 9.346842636557371e-6
allele num: 106988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1244C>T
  hgvsp: ENSP00000476646.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.596C>T
  hgvsp: ENSP00000477022.1:p.Pro199Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1316C>T
  hgvsp: ENSP00000477069.1:p.Pro439Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1244C>T
  hgvsp: ENSP00000476442.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1355C>T
  hgvsp: ENSP00000433338.1:p.Pro452Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2015C>T
  hgvsp: ENSP00000299402.6:p.Pro672Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.708C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2021C>T
  hgvsp: ENSP00000374556.2:p.Pro674Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2015C>T
  hgvsp: ENSP00000311912.3:p.Pro672Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+140C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2021C>T
  hgvsp: ENSP00000477213.1:p.Pro674Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1244C>T
  hgvsp: ENSP00000476871.1:p.Pro415Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.970C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1361C>T
  hgvsp: ENSP00000476846.1:p.Pro454Leu
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro672Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

11-6416878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416878
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416878
    reference: chr 11
allele count: 14
allele frequency: 1.305263943015906e-4
allele num: 107258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1242C>T
  hgvsp: ENST00000608704.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.968C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2019C>T
  hgvsp: ENST00000389906.2:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2013C>T
  hgvsp: ENST00000299402.6:c.2013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2019C>T
  hgvsp: ENST00000609360.1:c.2019C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2013C>T
  hgvsp: ENST00000311051.3:c.2013C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1359C>T
  hgvsp: ENST00000608655.1:c.1359C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1353C>T
  hgvsp: ENST00000530885.1:c.1353C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1242C>T
  hgvsp: ENST00000608645.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1314C>T
  hgvsp: ENST00000609331.1:c.1314C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.594C>T
  hgvsp: ENST00000529519.1:c.594C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+138C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1242C>T
  hgvsp: ENST00000608394.1:c.1242C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.706C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12706
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu671Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

11-6416888-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416888
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416888
    reference: chr 11
allele count: 1
allele frequency: 9.249153702436226e-6
allele num: 108118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.2003C>A
  hgvsp: ENSP00000299402.6:p.Thr668Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1349C>A
  hgvsp: ENSP00000476846.1:p.Thr450Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.696C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1232C>A
  hgvsp: ENSP00000476442.1:p.Thr411Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1232C>A
  hgvsp: ENSP00000476871.1:p.Thr411Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1232C>A
  hgvsp: ENSP00000476646.1:p.Thr411Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+128C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.584C>A
  hgvsp: ENSP00000477022.1:p.Thr195Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2009C>A
  hgvsp: ENSP00000374556.2:p.Thr670Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.958C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1343C>A
  hgvsp: ENSP00000433338.1:p.Thr448Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.2003C>A
  hgvsp: ENSP00000311912.3:p.Thr668Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2009C>A
  hgvsp: ENSP00000477213.1:p.Thr670Asn
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1304C>A
  hgvsp: ENSP00000477069.1:p.Thr435Asn
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr668Asn
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

11-6416893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416893
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416893
    reference: chr 11
allele count: 2
allele frequency: 1.841552797318699e-5
allele num: 108604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1227C>T
  hgvsp: ENST00000608704.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.953C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1998C>T
  hgvsp: ENST00000299402.6:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.691C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2004C>T
  hgvsp: ENST00000389906.2:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1998C>T
  hgvsp: ENST00000311051.3:c.1998C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1227C>T
  hgvsp: ENST00000608645.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1227C>T
  hgvsp: ENST00000608394.1:c.1227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+123C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2004C>T
  hgvsp: ENST00000609360.1:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1338C>T
  hgvsp: ENST00000530885.1:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1344C>T
  hgvsp: ENST00000608655.1:c.1344C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.579C>T
  hgvsp: ENST00000529519.1:c.579C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1299C>T
  hgvsp: ENST00000609331.1:c.1299C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala666Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-6416895-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416895
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416895
    reference: chr 11
allele count: 1
allele frequency: 9.217439395335976e-6
allele num: 108490
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.689G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1225G>C
  hgvsp: ENSP00000476442.1:p.Ala409Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+121G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1336G>C
  hgvsp: ENSP00000433338.1:p.Ala446Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.577G>C
  hgvsp: ENSP00000477022.1:p.Ala193Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.2002G>C
  hgvsp: ENSP00000374556.2:p.Ala668Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1996G>C
  hgvsp: ENSP00000299402.6:p.Ala666Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.951G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1342G>C
  hgvsp: ENSP00000476846.1:p.Ala448Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.2002G>C
  hgvsp: ENSP00000477213.1:p.Ala668Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1996G>C
  hgvsp: ENSP00000311912.3:p.Ala666Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1225G>C
  hgvsp: ENSP00000476871.1:p.Ala409Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1297G>C
  hgvsp: ENSP00000477069.1:p.Ala433Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1225G>C
  hgvsp: ENSP00000476646.1:p.Ala409Pro
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala666Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

11-6416903-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416903
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416903
    reference: chr 11
allele count: 2
allele frequency: 1.835030736764841e-5
allele num: 108990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1334G>A
  hgvsp: ENSP00000476846.1:p.Arg445His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1988G>A
  hgvsp: ENSP00000299402.6:p.Arg663His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1994G>A
  hgvsp: ENSP00000374556.2:p.Arg665His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1994G>A
  hgvsp: ENSP00000477213.1:p.Arg665His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1217G>A
  hgvsp: ENSP00000476442.1:p.Arg406His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1289G>A
  hgvsp: ENSP00000477069.1:p.Arg430His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1217G>A
  hgvsp: ENSP00000476871.1:p.Arg406His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.681G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1988G>A
  hgvsp: ENSP00000311912.3:p.Arg663His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.943G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.569G>A
  hgvsp: ENSP00000477022.1:p.Arg190His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+113G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1217G>A
  hgvsp: ENSP00000476646.1:p.Arg406His
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1328G>A
  hgvsp: ENSP00000433338.1:p.Arg443His
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14321
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg663His
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum

11-6416908-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416908
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416908
    reference: chr 11
allele count: 1
allele frequency: 9.112779762338703e-6
allele num: 109736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1329T>C
  hgvsp: ENST00000608655.1:c.1329T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.564T>C
  hgvsp: ENST00000529519.1:c.564T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1212T>C
  hgvsp: ENST00000608645.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1212T>C
  hgvsp: ENST00000608394.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.938T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1983T>C
  hgvsp: ENST00000311051.3:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1983T>C
  hgvsp: ENST00000299402.6:c.1983T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1323T>C
  hgvsp: ENST00000530885.1:c.1323T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.676T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1989T>C
  hgvsp: ENST00000389906.2:c.1989T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+108T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1212T>C
  hgvsp: ENST00000608704.1:c.1212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1989T>C
  hgvsp: ENST00000609360.1:c.1989T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1284T>C
  hgvsp: ENST00000609331.1:c.1284T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp661Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

11-6416917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416917
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416917
    reference: chr 11
allele count: 2
allele frequency: 1.815837736739845e-5
allele num: 110142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1203G>A
  hgvsp: ENST00000608704.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1974G>A
  hgvsp: ENST00000299402.6:c.1974G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.929G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.667G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1974G>A
  hgvsp: ENST00000311051.3:c.1974G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.555G>A
  hgvsp: ENST00000529519.1:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1980G>A
  hgvsp: ENST00000389906.2:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1314G>A
  hgvsp: ENST00000530885.1:c.1314G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1203G>A
  hgvsp: ENST00000608394.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1203G>A
  hgvsp: ENST00000608645.1:c.1203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1320G>A
  hgvsp: ENST00000608655.1:c.1320G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+99G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1980G>A
  hgvsp: ENST00000609360.1:c.1980G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1275G>A
  hgvsp: ENST00000609331.1:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15099
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4535
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys658Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

11-6416927-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416927
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416927
    reference: chr 11
allele count: 1
allele frequency: 9.059283954196261e-6
allele num: 110384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1193G>C
  hgvsp: ENSP00000476871.1:p.Arg398Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1193G>C
  hgvsp: ENSP00000476442.1:p.Arg398Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1970G>C
  hgvsp: ENSP00000374556.2:p.Arg657Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1304G>C
  hgvsp: ENSP00000433338.1:p.Arg435Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.657G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1265G>C
  hgvsp: ENSP00000477069.1:p.Arg422Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1964G>C
  hgvsp: ENSP00000311912.3:p.Arg655Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1970G>C
  hgvsp: ENSP00000477213.1:p.Arg657Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.545G>C
  hgvsp: ENSP00000477022.1:p.Arg182Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+89G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1964G>C
  hgvsp: ENSP00000299402.6:p.Arg655Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.919G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1193G>C
  hgvsp: ENSP00000476646.1:p.Arg398Pro
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1310G>C
  hgvsp: ENSP00000476846.1:p.Arg437Pro
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27008
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg655Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-6416928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416928
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416928
    reference: chr 11
allele count: 2
allele frequency: 1.805934300110162e-5
allele num: 110746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1969C>T
  hgvsp: ENSP00000477213.1:p.Arg657Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1309C>T
  hgvsp: ENSP00000476846.1:p.Arg437Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1963C>T
  hgvsp: ENSP00000299402.6:p.Arg655Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1963C>T
  hgvsp: ENSP00000311912.3:p.Arg655Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.544C>T
  hgvsp: ENSP00000477022.1:p.Arg182Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1192C>T
  hgvsp: ENSP00000476442.1:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1969C>T
  hgvsp: ENSP00000374556.2:p.Arg657Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1303C>T
  hgvsp: ENSP00000433338.1:p.Arg435Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1192C>T
  hgvsp: ENSP00000476871.1:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.918C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.656C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1192C>T
  hgvsp: ENSP00000476646.1:p.Arg398Cys
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+88C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1264C>T
  hgvsp: ENSP00000477069.1:p.Arg422Cys
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15793
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg655Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

11-6416934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416934
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416934
    reference: chr 11
allele count: 6
allele frequency: 5.391610653822652e-5
allele num: 111284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+82C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-3C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-3C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16112
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1960-3C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-6416935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416935
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416935
    reference: chr 11
allele count: 1
allele frequency: 8.990865280874631e-6
allele num: 111224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+81G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-4G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-4G>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1960-4G>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

11-6416935-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416935
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416935
    reference: chr 11
allele count: 2
allele frequency: 1.798173056174926e-5
allele num: 111224
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+81G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-4G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-4G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1960-4G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

11-6416935-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416935
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416935
    reference: chr 11
allele count: 1
allele frequency: 8.990865280874631e-6
allele num: 111224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+81G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-4G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-4G>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1960-4G>C
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

11-6416936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416936
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416936
    reference: chr 11
allele count: 1
allele frequency: 8.971023593792052e-6
allele num: 111470
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+80C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-5C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-5C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26996
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1960-5C>T
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

11-6416946-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416946
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416946
    reference: chr 11
allele count: 1
allele frequency: 8.888730867006808e-6
allele num: 112502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-15T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+70T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-15T>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

11-6416949-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416949
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416949
    reference: chr 11
allele count: 2
allele frequency: 1.775347524277877e-5
allele num: 112654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+67C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-18C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-18C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-6416956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416956
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416956
    reference: chr 11
allele count: 1
allele frequency: 8.819430970313796e-6
allele num: 113386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+60G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-25G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-25G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

11-6416959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416959
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416959
    reference: chr 11
allele count: 101579
allele frequency: 8.622712301789413e-1
allele num: 117804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+57G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-28G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-28G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 2.75e1
  variant carriers: 4307
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.25e1
  variant carriers: 1318
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 9.75e1
  variant carriers: 932
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 6.75e1
  variant carriers: 1843
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 7668
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 5.25e1
  variant carriers: 5238
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 1.25e1
  variant carriers: 2479
genotype depth: GenotypeDepth
  all individuals: 3167
  bin: 2.25e1
  variant carriers: 2642
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.25e1
  variant carriers: 6272
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 3.75e1
  variant carriers: 7450
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 8.75e1
  variant carriers: 384
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.25e1
  variant carriers: 540
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 7.5e0
  variant carriers: 1244
genotype quality: GenotypeQuality
num of homozygotes: 43944
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-6416960-CCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416960
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416888
    reference: chr 11
allele count: 1
allele frequency: 8.495743632440147e-6
allele num: 117706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7998
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: CCAGCCTACCTCCCATGGGGCCACGCCACCACCACACCACCCTACTAGTAGCTTACCATGCACGCAGCCTGCA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

11-6416971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416971
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416971
    reference: chr 11
allele count: 7
allele frequency: 5.943586869767521e-5
allele num: 117774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+45G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-40G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-40G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7635
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-6416972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416972
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416972
    reference: chr 11
allele count: 107
allele frequency: 9.086122857967766e-4
allele num: 117762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1966-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.541-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1966-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1300-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1306-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1960-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1960-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1261-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1189-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.915-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.653-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1189-41G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+44G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1189-41G>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7604
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 2
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-6416974-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416974
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416974
    reference: chr 11
allele count: 1
allele frequency: 8.485218748939348e-6
allele num: 117852
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+42T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+42T>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

11-6416975-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416975
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416975
    reference: chr 11
allele count: 5
allele frequency: 4.244770442814453e-5
allele num: 117792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+41A>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+41A>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

11-6416976-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416976
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416976
    reference: chr 11
allele count: 1
allele frequency: 8.494733265375467e-6
allele num: 117720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+40C>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+40C>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3432
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-6416983-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416983
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416983
    reference: chr 11
allele count: 9
allele frequency: 7.654883815874528e-5
allele num: 117572
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+33G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+33G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

11-6416984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416984
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416984
    reference: chr 11
allele count: 1544
allele frequency: 1.311297199055594e-2
allele num: 117746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+32C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+32C>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 139
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 7719
  bin: 4.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 6.25e1
  variant carriers: 135
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 3526
  bin: 2.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 14
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

11-6416984-GCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416984
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416981
    reference: chr 11
allele count: 2
allele frequency: 1.69857150136735e-5
allele num: 117746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+29_1188+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+29_652+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+29_1299+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+29_1188+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+29_1965+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+29_1959+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+29_1188+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+29_1959+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+29_1305+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+29_1965+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+29_540+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+29_1260+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+29_914+31delTGG
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+29_1965+31delTGG
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: GCCA
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

11-6416985-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416985
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416985
    reference: chr 11
allele count: 1
allele frequency: 8.49213628180305e-6
allele num: 117756
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+31G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+31G>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5007
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7770
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-6416993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416993
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416993
    reference: chr 11
allele count: 121
allele frequency: 1.037273257209478e-3
allele num: 116652
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+23T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+23T>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 5.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-6416996-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416996
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416996
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 115850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+20G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+20G>T
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6687
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/11-6416997-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416997
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416998
    reference: chr 11
allele count: 1
allele frequency: 8.634683797879321e-6
allele num: 115812
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+18dupT
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+18dupT
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5017
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

11-6416998-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6416998
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6416998
    reference: chr 11
allele count: 2
allele frequency: 1.732561765826952e-5
allele num: 115436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+18T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+18T>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

11-6417001-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417001
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417001
    reference: chr 11
allele count: 4
allele frequency: 3.461045928079466e-5
allele num: 115572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+15G>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+15G>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8045
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

11-6417004-CTAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417004
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417001
    reference: chr 11
allele count: 18641
allele frequency: 1.553313112459169e-1
allele num: 120008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+9_1305+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+9_540+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+9_1959+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+9_1965+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+9_652+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+9_1965+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+9_1965+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+9_1959+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+9_1188+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+9_1299+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+9_914+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+9_1188+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+9_1188+11delCTA
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+9_1260+11delCTA
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 5.75e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 4.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.75e1
  variant carriers: 910
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 8.25e1
  variant carriers: 1084
genotype depth: GenotypeDepth
  all individuals: 6644
  bin: 3.75e1
  variant carriers: 515
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 2.75e1
  variant carriers: 755
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 2.25e1
  variant carriers: 763
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 1.75e1
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 9.25e1
  variant carriers: 793
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 1280
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 1195
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 3.25e1
  variant carriers: 591
genotype quality: GenotypeQuality
num of homozygotes: 1707
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: CTAG
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

11-6417007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417007
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417007
    reference: chr 11
allele count: 1
allele frequency: 1.074321565931115e-5
allele num: 93082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1260+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1965+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.540+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1299+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1188+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1965+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.914+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1965+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1188+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1959+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.652+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1305+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1959+9C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1188+9C>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-6417022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417022
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417022
    reference: chr 11
allele count: 2
allele frequency: 1.662648599218555e-5
allele num: 120290
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1953G>A
  hgvsp: ENST00000299402.6:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1299G>A
  hgvsp: ENST00000608655.1:c.1299G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1182G>A
  hgvsp: ENST00000608704.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.534G>A
  hgvsp: ENST00000529519.1:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1959G>A
  hgvsp: ENST00000608435.1:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1959G>A
  hgvsp: ENST00000609360.1:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1293G>A
  hgvsp: ENST00000530885.1:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.646G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1182G>A
  hgvsp: ENST00000608394.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1182G>A
  hgvsp: ENST00000608645.1:c.1182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1254G>A
  hgvsp: ENST00000609331.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1959G>A
  hgvsp: ENST00000389906.2:c.1959G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1953G>A
  hgvsp: ENST00000311051.3:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.908G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala651Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-6417031-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417031
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417031
    reference: chr 11
allele count: 2
allele frequency: 1.663589026966778e-5
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1284G>T
  hgvsp: ENST00000530885.1:c.1284G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.637G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1950G>T
  hgvsp: ENST00000389906.2:c.1950G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1245G>T
  hgvsp: ENST00000609331.1:c.1245G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1950G>T
  hgvsp: ENST00000608435.1:c.1950G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1173G>T
  hgvsp: ENST00000608394.1:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.525G>T
  hgvsp: ENST00000529519.1:c.525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1950G>T
  hgvsp: ENST00000609360.1:c.1950G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1944G>T
  hgvsp: ENST00000311051.3:c.1944G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1290G>T
  hgvsp: ENST00000608655.1:c.1290G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1944G>T
  hgvsp: ENST00000299402.6:c.1944G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1173G>T
  hgvsp: ENST00000608645.1:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.899G>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1173G>T
  hgvsp: ENST00000608704.1:c.1173G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val648Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-6417032-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417032
    reference: chr 11
allele count: 10
allele frequency: 8.41609156707625e-5
allele num: 118820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1949T>G
  hgvsp: ENSP00000374556.2:p.Val650Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1949T>G
  hgvsp: ENSP00000477213.1:p.Val650Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1244T>G
  hgvsp: ENSP00000477069.1:p.Val415Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1943T>G
  hgvsp: ENSP00000299402.6:p.Val648Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.524T>G
  hgvsp: ENSP00000477022.1:p.Val175Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1172T>G
  hgvsp: ENSP00000476442.1:p.Val391Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.898T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1283T>G
  hgvsp: ENSP00000433338.1:p.Val428Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1949T>G
  hgvsp: ENSP00000476776.1:p.Val650Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1943T>G
  hgvsp: ENSP00000311912.3:p.Val648Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1172T>G
  hgvsp: ENSP00000476871.1:p.Val391Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1289T>G
  hgvsp: ENSP00000476846.1:p.Val430Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1172T>G
  hgvsp: ENSP00000476646.1:p.Val391Gly
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.636T>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val648Gly
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/11-6417052-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417052
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417052
    reference: chr 11
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1224T>G
  hgvsp: ENST00000609331.1:c.1224T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.504T>G
  hgvsp: ENST00000529519.1:c.504T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1929T>G
  hgvsp: ENST00000608435.1:c.1929T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1929T>G
  hgvsp: ENST00000609360.1:c.1929T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1152T>G
  hgvsp: ENST00000608645.1:c.1152T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.878T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1263T>G
  hgvsp: ENST00000530885.1:c.1263T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1923T>G
  hgvsp: ENST00000311051.3:c.1923T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.616T>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1923T>G
  hgvsp: ENST00000299402.6:c.1923T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1152T>G
  hgvsp: ENST00000608394.1:c.1152T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1152T>G
  hgvsp: ENST00000608704.1:c.1152T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1929T>G
  hgvsp: ENST00000389906.2:c.1929T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1269T>G
  hgvsp: ENST00000608655.1:c.1269T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala641Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-6417053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417053
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417053
    reference: chr 11
allele count: 1
allele frequency: 8.295726041943191e-6
allele num: 120544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1268C>T
  hgvsp: ENSP00000476846.1:p.Ala423Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1151C>T
  hgvsp: ENSP00000476646.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1922C>T
  hgvsp: ENSP00000299402.6:p.Ala641Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1262C>T
  hgvsp: ENSP00000433338.1:p.Ala421Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1151C>T
  hgvsp: ENSP00000476442.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1151C>T
  hgvsp: ENSP00000476871.1:p.Ala384Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1928C>T
  hgvsp: ENSP00000374556.2:p.Ala643Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1223C>T
  hgvsp: ENSP00000477069.1:p.Ala408Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1928C>T
  hgvsp: ENSP00000477213.1:p.Ala643Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.877C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.503C>T
  hgvsp: ENSP00000477022.1:p.Ala168Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1928C>T
  hgvsp: ENSP00000476776.1:p.Ala643Val
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.615C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1922C>T
  hgvsp: ENSP00000311912.3:p.Ala641Val
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala641Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

11-6417055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417055
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417055
    reference: chr 11
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1149T>C
  hgvsp: ENST00000608645.1:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1260T>C
  hgvsp: ENST00000530885.1:c.1260T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.875T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1149T>C
  hgvsp: ENST00000608704.1:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1926T>C
  hgvsp: ENST00000608435.1:c.1926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1926T>C
  hgvsp: ENST00000609360.1:c.1926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1926T>C
  hgvsp: ENST00000389906.2:c.1926T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.501T>C
  hgvsp: ENST00000529519.1:c.501T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1221T>C
  hgvsp: ENST00000609331.1:c.1221T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1149T>C
  hgvsp: ENST00000608394.1:c.1149T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1920T>C
  hgvsp: ENST00000311051.3:c.1920T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1266T>C
  hgvsp: ENST00000608655.1:c.1266T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1920T>C
  hgvsp: ENST00000299402.6:c.1920T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.613T>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn640Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

11-6417061-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417061
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417061
    reference: chr 11
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1215G>A
  hgvsp: ENST00000609331.1:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1254G>A
  hgvsp: ENST00000530885.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1260G>A
  hgvsp: ENST00000608655.1:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1920G>A
  hgvsp: ENST00000609360.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1914G>A
  hgvsp: ENST00000299402.6:c.1914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1143G>A
  hgvsp: ENST00000608394.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.495G>A
  hgvsp: ENST00000529519.1:c.495G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1920G>A
  hgvsp: ENST00000608435.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1920G>A
  hgvsp: ENST00000389906.2:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1143G>A
  hgvsp: ENST00000608704.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1143G>A
  hgvsp: ENST00000608645.1:c.1143G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.869G>A
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1914G>A
  hgvsp: ENST00000311051.3:c.1914G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.607G>A
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu638Glu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

11-6417064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417064
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417064
    reference: chr 11
allele count: 3
allele frequency: 2.488387524883875e-5
allele num: 120560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1917C>T
  hgvsp: ENST00000389906.2:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1917C>T
  hgvsp: ENST00000608435.1:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.866C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1257C>T
  hgvsp: ENST00000608655.1:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.492C>T
  hgvsp: ENST00000529519.1:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1140C>T
  hgvsp: ENST00000608394.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1911C>T
  hgvsp: ENST00000299402.6:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1251C>T
  hgvsp: ENST00000530885.1:c.1251C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1917C>T
  hgvsp: ENST00000609360.1:c.1917C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.604C>T
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1212C>T
  hgvsp: ENST00000609331.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1911C>T
  hgvsp: ENST00000311051.3:c.1911C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1140C>T
  hgvsp: ENST00000608645.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1140C>T
  hgvsp: ENST00000608704.1:c.1140C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys637Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-6417082-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417082
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417082
    reference: chr 11
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1122C>G
  hgvsp: ENSP00000476442.1:p.Cys374Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1899C>G
  hgvsp: ENSP00000476776.1:p.Cys633Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1122C>G
  hgvsp: ENSP00000476646.1:p.Cys374Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1233C>G
  hgvsp: ENSP00000433338.1:p.Cys411Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.474C>G
  hgvsp: ENSP00000477022.1:p.Cys158Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1122C>G
  hgvsp: ENSP00000476871.1:p.Cys374Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1893C>G
  hgvsp: ENSP00000299402.6:p.Cys631Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1239C>G
  hgvsp: ENSP00000476846.1:p.Cys413Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1899C>G
  hgvsp: ENSP00000477213.1:p.Cys633Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.586C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1194C>G
  hgvsp: ENSP00000477069.1:p.Cys398Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1899C>G
  hgvsp: ENSP00000374556.2:p.Cys633Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1893C>G
  hgvsp: ENSP00000311912.3:p.Cys631Trp
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.848C>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6988
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7716
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys631Trp
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-6417087-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417087
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417087
    reference: chr 11
allele count: 1
allele frequency: 8.296414289743973e-6
allele num: 120534
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1894T>C
  hgvsp: ENSP00000477213.1:p.Phe632Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1189T>C
  hgvsp: ENSP00000477069.1:p.Phe397Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.469T>C
  hgvsp: ENSP00000477022.1:p.Phe157Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1888T>C
  hgvsp: ENSP00000299402.6:p.Phe630Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1117T>C
  hgvsp: ENSP00000476871.1:p.Phe373Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1888T>C
  hgvsp: ENSP00000311912.3:p.Phe630Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1117T>C
  hgvsp: ENSP00000476646.1:p.Phe373Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1228T>C
  hgvsp: ENSP00000433338.1:p.Phe410Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1894T>C
  hgvsp: ENSP00000476776.1:p.Phe632Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.843T>C
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1234T>C
  hgvsp: ENSP00000476846.1:p.Phe412Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1117T>C
  hgvsp: ENSP00000476442.1:p.Phe373Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1894T>C
  hgvsp: ENSP00000374556.2:p.Phe632Leu
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.581T>C
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe630Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-6417095-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6417095
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 6417095
    reference: chr 11
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000374556
  ensembl transcript: ENST00000389906
  gene symbol: APBB1
  hgvsc: ENST00000389906.2:c.1886C>G
  hgvsp: ENSP00000374556.2:p.Pro629Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476871
  ensembl transcript: ENST00000608704
  gene symbol: APBB1
  hgvsc: ENST00000608704.1:c.1109C>G
  hgvsp: ENSP00000476871.1:p.Pro370Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000299402
  ensembl transcript: ENST00000299402
  gene symbol: APBB1
  hgvsc: ENST00000299402.6:c.1880C>G
  hgvsp: ENSP00000299402.6:p.Pro627Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000524626
  gene symbol: APBB1
  hgvsc: ENST00000524626.1:n.835C>G
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477022
  ensembl transcript: ENST00000529519
  gene symbol: APBB1
  hgvsc: ENST00000529519.1:c.461C>G
  hgvsp: ENSP00000477022.1:p.Pro154Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476442
  ensembl transcript: ENST00000608394
  gene symbol: APBB1
  hgvsc: ENST00000608394.1:c.1109C>G
  hgvsp: ENSP00000476442.1:p.Pro370Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000311912
  ensembl transcript: ENST00000311051
  gene symbol: APBB1
  hgvsc: ENST00000311051.3:c.1880C>G
  hgvsp: ENSP00000311912.3:p.Pro627Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000433338
  ensembl transcript: ENST00000530885
  gene symbol: APBB1
  hgvsc: ENST00000530885.1:c.1220C>G
  hgvsp: ENSP00000433338.1:p.Pro407Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477213
  ensembl transcript: ENST00000609360
  gene symbol: APBB1
  hgvsc: ENST00000609360.1:c.1886C>G
  hgvsp: ENSP00000477213.1:p.Pro629Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000477069
  ensembl transcript: ENST00000609331
  gene symbol: APBB1
  hgvsc: ENST00000609331.1:c.1181C>G
  hgvsp: ENSP00000477069.1:p.Pro394Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476846
  ensembl transcript: ENST00000608655
  gene symbol: APBB1
  hgvsc: ENST00000608655.1:c.1226C>G
  hgvsp: ENSP00000476846.1:p.Pro409Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476776
  ensembl transcript: ENST00000608435
  gene symbol: APBB1
  hgvsc: ENST00000608435.1:c.1886C>G
  hgvsp: ENSP00000476776.1:p.Pro629Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000166313
  ensembl protein: ENSP00000476646
  ensembl transcript: ENST00000608645
  gene symbol: APBB1
  hgvsc: ENST00000608645.1:c.1109C>G
  hgvsp: ENSP00000476646.1:p.Pro370Arg
  variant of: http://identifiers.org/hgnc/581
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000166313
  ensembl transcript: ENST00000526240
  gene symbol: APBB1
  hgvsc: ENST00000526240.1:n.573C>G
  variant of: http://identifiers.org/hgnc/581
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro627Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

GenotypeDepth
all individuals: 41
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1795
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 923
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele num: 7342
num of homozygotes: 0

European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.170141784820684e-5
allele num: 47960
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

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

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

Latino
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ClippingRankSum
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FS
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DP
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 6736
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 1.31578947368421e-4
allele num: 7600
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.753524584414673e-5
allele num: 57028
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

Latino
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allele frequency: 1.08837614279495e-4
allele num: 9188
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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FS
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MQRankSum
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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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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European (Non-Finnish)
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MQ
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InbreedingCoeff
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FS
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QD
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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Other
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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DP
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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African
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Latino
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South Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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DP
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MQRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele num: 60584
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South Asian
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Latino
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African
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East Asian
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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European (Finnish)
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allele num: 5194
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Latino
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East Asian
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MQRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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East Asian
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Other
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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ClippingRankSum
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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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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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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VQSLOD
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ClippingRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.290322580645161e-3
allele num: 10850
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 62364
num of homozygotes: 0

Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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ReadPosRankSum
type: SiteQuality
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DP
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QD
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FS
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SIO_000300: 7.09e-1

VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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Latino
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Other
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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MQ
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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South Asian
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East Asian
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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African
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Other
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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East Asian
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South Asian
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European (Finnish)
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Other
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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South Asian
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African
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European (Non-Finnish)
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FS
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QD
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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African
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Latino
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Other
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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FS
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MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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QD
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1613
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574059499449079e-5
allele num: 63530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.851e1

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

FS
type: SiteQuality
SIO_000300: 5.067e0

DP
type: SiteQuality
SIO_000300: 1.409011e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.006e0

QD
type: SiteQuality
SIO_000300: 1.037e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

GenotypeDepth
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 474
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6080
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17096018735363e-4
allele num: 8540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

DP
type: SiteQuality
SIO_000300: 1.414685e6

QD
type: SiteQuality
SIO_000300: 4.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.985e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

FS
type: SiteQuality
SIO_000300: 6.065e0

GenotypeDepth
all individuals: 1459
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3179
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variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.562841871659425e-5
allele num: 63986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.718e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.549e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

DP
type: SiteQuality
SIO_000300: 1.437362e6

FS
type: SiteQuality
SIO_000300: 4.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

QD
type: SiteQuality
SIO_000300: 7.58e0

GenotypeDepth
all individuals: 44
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6691
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 29
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variant carriers: 0

GenotypeDepth
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 673
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variant carriers: 0

GenotypeQuality
all individuals: 484
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GenotypeQuality
all individuals: 8082
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3217
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
all individuals: 548
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 1047
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 32410
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64006
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.730403183941858e-4
allele num: 11558
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

FS
type: SiteQuality
SIO_000300: 3.507e0

MQ
type: SiteQuality
SIO_000300: 6.086e1

VQSLOD
type: SiteQuality
SIO_000300: -9.809e-1

QD
type: SiteQuality
SIO_000300: 1.497e1

DP
type: SiteQuality
SIO_000300: 1.442597e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.965e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.69e-1

GenotypeDepth
all individuals: 47
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 29
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 166
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variant carriers: 0

GenotypeQuality
all individuals: 277
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1098
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variant carriers: 1

GenotypeQuality
all individuals: 2047
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.001e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.946e0

DP
type: SiteQuality
SIO_000300: 1.45744e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeDepth
all individuals: 2388
bin: 1.75e1
variant carriers: 2348

GenotypeDepth
all individuals: 3884
bin: 5.75e1
variant carriers: 3878

GenotypeDepth
all individuals: 846
bin: 7.75e1
variant carriers: 845

GenotypeDepth
all individuals: 6613
bin: 4.75e1
variant carriers: 6596

GenotypeDepth
all individuals: 2699
bin: 6.25e1
variant carriers: 2695

GenotypeQuality
all individuals: 46457
bin: 9.75e1
variant carriers: 46449

GenotypeQuality
all individuals: 278
bin: 1.75e1
variant carriers: 270

GenotypeQuality
all individuals: 726
bin: 2.25e1
variant carriers: 441

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 17

GenotypeQuality
all individuals: 1474
bin: 8.25e1
variant carriers: 1472

GenotypeQuality
all individuals: 327
bin: 2.75e1
variant carriers: 314

GenotypeQuality
all individuals: 936
bin: 8.75e1
variant carriers: 934

GenotypeQuality
all individuals: 1694
bin: 6.25e1
variant carriers: 791

GenotypeQuality
all individuals: 622
bin: 7.25e1
variant carriers: 606

GenotypeQuality
all individuals: 759
bin: 4.75e1
variant carriers: 750

GenotypeQuality
all individuals: 1215
bin: 7.75e1
variant carriers: 1209

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 44

GenotypeQuality
all individuals: 668
bin: 3.25e1
variant carriers: 654

GenotypeQuality
all individuals: 812
bin: 3.75e1
variant carriers: 794

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 717

GenotypeQuality
all individuals: 437
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variant carriers: 412

GenotypeQuality
all individuals: 973
bin: 6.75e1
variant carriers: 878

GenotypeQuality
all individuals: 74
bin: 1.25e1
variant carriers: 70

GenotypeQuality
all individuals: 1788
bin: 9.25e1
variant carriers: 1787

GenotypeQuality
all individuals: 428
bin: 4.25e1
variant carriers: 420

Latino
type: Population
allele count: 9827
allele frequency: 8.542246175243393e-1
allele num: 11504
num of homozygotes: 4200

South Asian
type: Population
allele count: 10750
allele frequency: 7.470465601111883e-1
allele num: 14390
num of homozygotes: 3991

European (Non-Finnish)
type: Population
allele count: 56415
allele frequency: 8.608508560441908e-1
allele num: 65534
num of homozygotes: 24262

East Asian
type: Population
allele count: 8569
allele frequency: 9.931617987946222e-1
allele num: 8628
num of homozygotes: 4255

African
type: Population
allele count: 9444
allele frequency: 9.152936615623183e-1
allele num: 10318
num of homozygotes: 4321

European (Finnish)
type: Population
allele count: 5849
allele frequency: 8.899878271454656e-1
allele num: 6572
num of homozygotes: 2608

Other
type: Population
allele count: 725
allele frequency: 8.44988344988345e-1
allele num: 858
num of homozygotes: 307

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.557236e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.03e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

QD
type: SiteQuality
SIO_000300: 3.169e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

GenotypeDepth
all individuals: 3208
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5757
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1560
bin: 7.5e0
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GenotypeDepth
all individuals: 330
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variant carriers: 0

GenotypeDepth
all individuals: 693
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variant carriers: 1

GenotypeDepth
all individuals: 224
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GenotypeDepth
all individuals: 2252
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 25321
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GenotypeQuality
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GenotypeQuality
all individuals: 418
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 71
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GenotypeQuality
all individuals: 3826
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GenotypeQuality
all individuals: 842
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variant carriers: 0

GenotypeQuality
all individuals: 1109
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GenotypeQuality
all individuals: 204
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GenotypeQuality
all individuals: 624
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GenotypeQuality
all individuals: 604
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GenotypeQuality
all individuals: 3473
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GenotypeQuality
all individuals: 320
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 366
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GenotypeQuality
all individuals: 3648
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GenotypeQuality
all individuals: 7607
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GenotypeQuality
all individuals: 4220
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variant carriers: 1

GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 810
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2300
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 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 frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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FS
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DP
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65462
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14418
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

African
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allele frequency: 5.8331713007972e-4
allele num: 10286
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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FS
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SIO_000300: 4.207e0

QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -4.06e-1

MQRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 16
allele frequency: 1.110340041637752e-3
allele num: 14410
num of homozygotes: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8620
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African
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allele count: 84
allele frequency: 8.16326530612245e-3
allele num: 10290
num of homozygotes: 1

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

Latino
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allele frequency: 5.202913631633715e-4
allele num: 11532
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 2.04e-2

DP
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SIO_000300: 2.446592e6

MQ
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.32e-1

MQRankSum
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SIO_000300: -9.389999999999999e-1

QD
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SIO_000300: 1.401e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52699731248473e-5
allele num: 65488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6584
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
SIO_000300: 5.905e1

MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -7.000000000000001e-2

QD
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SIO_000300: 1.284e1

ReadPosRankSum
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SIO_000300: 6.8e-2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.926167059149467e-5
allele num: 14438
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African
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European (Non-Finnish)
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allele count: 4
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allele num: 65474
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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FS
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MQRankSum
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ClippingRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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MQRankSum
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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allele frequency: 1.223166778790288e-4
allele num: 65404
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FS
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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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DP
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VQSLOD
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BaseQRankSum
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QD
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GenotypeDepth
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variant carriers: 151

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1515

GenotypeQuality
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variant carriers: 5

European (Finnish)
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allele count: 150
allele frequency: 2.28171585031944e-2
allele num: 6574
num of homozygotes: 2

Other
type: Population
allele count: 15
allele frequency: 1.744186046511628e-2
allele num: 860
num of homozygotes: 0

African
type: Population
allele count: 23
allele frequency: 2.250048914106829e-3
allele num: 10222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1092
allele frequency: 1.668245287054294e-2
allele num: 65458
num of homozygotes: 7

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

Latino
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allele frequency: 6.942034015966678e-3
allele num: 11524
num of homozygotes: 1

South Asian
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allele count: 184
allele frequency: 1.270718232044199e-2
allele num: 14480
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.64e-1

MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65458
num of homozygotes: 0

South Asian
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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 frequency: 1.956564273136372e-4
allele num: 10222
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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SIO_000300: 5.944e1

QD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.786651008025054e-5
allele num: 10218
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -1.0e0

InbreedingCoeff
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SIO_000300: 2.0e-3

ReadPosRankSum
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SIO_000300: 1.64e0

MQ
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SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
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SIO_000300: 5.679999999999999e-1

VQSLOD
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SIO_000300: -3.495e-1

QD
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SIO_000300: 8.07e0

DP
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SIO_000300: 2.494773e6

GenotypeDepth
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variant carriers: 11

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64974
num of homozygotes: 0

African
type: Population
allele count: 112
allele frequency: 1.127895266868077e-2
allele num: 9930
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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 4
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allele num: 14334
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 4.385195579722856e-4
allele num: 11402
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QD
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MQ
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FS
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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SIO_000300: 2.92e-1

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

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

African
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.414227124876255e-4
allele num: 14142
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.069e0

VQSLOD
type: SiteQuality
SIO_000300: -1.637e0

QD
type: SiteQuality
SIO_000300: 2.693e1

DP
type: SiteQuality
SIO_000300: 2.54825e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 5.764e1

GenotypeDepth
all individuals: 33
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3874
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GenotypeQuality
all individuals: 2533
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.209059017105958e-5
allele num: 64422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14226
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

VQSLOD
type: SiteQuality
SIO_000300: -1.953e0

MQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

FS
type: SiteQuality
SIO_000300: 6.634e0

DP
type: SiteQuality
SIO_000300: 2.554105e6

QD
type: SiteQuality
SIO_000300: 2.599e1

GenotypeDepth
all individuals: 4370
bin: 5.25e1
variant carriers: 835

GenotypeDepth
all individuals: 2338
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variant carriers: 1244

GenotypeDepth
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variant carriers: 2653

GenotypeDepth
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variant carriers: 1190

GenotypeDepth
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variant carriers: 757

GenotypeQuality
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bin: 2.75e1
variant carriers: 11

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 7

GenotypeQuality
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variant carriers: 31

GenotypeQuality
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variant carriers: 16

GenotypeQuality
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variant carriers: 39

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 34

GenotypeQuality
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GenotypeQuality
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variant carriers: 46

GenotypeQuality
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variant carriers: 16554

GenotypeQuality
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bin: 9.25e1
variant carriers: 32

GenotypeQuality
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bin: 6.75e1
variant carriers: 39

GenotypeQuality
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variant carriers: 61

GenotypeQuality
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bin: 4.75e1
variant carriers: 23

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 18

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 15

European (Finnish)
type: Population
allele count: 725
allele frequency: 1.098817823582904e-1
allele num: 6598
num of homozygotes: 47

South Asian
type: Population
allele count: 4321
allele frequency: 2.69826401898339e-1
allele num: 16014
num of homozygotes: 601

Latino
type: Population
allele count: 1752
allele frequency: 1.518197573656846e-1
allele num: 11540
num of homozygotes: 136

African
type: Population
allele count: 2360
allele frequency: 2.29126213592233e-1
allele num: 10300
num of homozygotes: 264

Other
type: Population
allele count: 141
allele frequency: 1.580717488789238e-1
allele num: 892
num of homozygotes: 13

European (Non-Finnish)
type: Population
allele count: 9285
allele frequency: 1.405880927866271e-1
allele num: 66044
num of homozygotes: 646

East Asian
type: Population
allele count: 57
allele frequency: 6.612529002320186e-3
allele num: 8620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

QD
type: SiteQuality
SIO_000300: 2.015e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

MQ
type: SiteQuality
SIO_000300: 5.611e1

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 2.930597e6

GenotypeDepth
all individuals: 425
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2689
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variant carriers: 0

GenotypeDepth
all individuals: 6111
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 1946
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3053
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 309
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.43143429716576e-4
allele num: 6986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.139e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.278e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.868e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

FS
type: SiteQuality
SIO_000300: 7.1e-1

MQ
type: SiteQuality
SIO_000300: 6.056e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-2

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 2.045557e6

GenotypeDepth
all individuals: 464
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variant carriers: 0

GenotypeDepth
all individuals: 2518
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variant carriers: 0

GenotypeDepth
all individuals: 7565
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 33
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 93
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.79431929480901e-5
allele num: 10210
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16282
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.345e0

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

FS
type: SiteQuality
SIO_000300: 6.887e0

DP
type: SiteQuality
SIO_000300: 2.673887e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

GenotypeDepth
all individuals: 6724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7648
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4857
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variant carriers: 0

GenotypeDepth
all individuals: 1382
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.030394860450317e-5
allele num: 65998
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.2748e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.948e0

DP
type: SiteQuality
SIO_000300: 2.680017e6

MQ
type: SiteQuality
SIO_000300: 5.735e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.015e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.381e0

QD
type: SiteQuality
SIO_000300: 1.078e1

GenotypeDepth
all individuals: 1043
bin: 7.75e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9102
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.139802631578947e-4
allele num: 9728
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.136475208640157e-5
allele num: 65184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.550387596899225e-4
allele num: 6450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

FS
type: SiteQuality
SIO_000300: 2.33351e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.417e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e0

MQ
type: SiteQuality
SIO_000300: 5.552e1

QD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.812e0

DP
type: SiteQuality
SIO_000300: 2.693458e6

VQSLOD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
all individuals: 3556
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10153
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3785
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
type: SiteQuality
SIO_000300: 2.689181e6

VQSLOD
type: SiteQuality
SIO_000300: -4.787e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 8.487e0

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.72e-1

GenotypeDepth
all individuals: 405
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2512
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4855
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3538
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7332
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 809
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1415
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 566
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2328
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4568
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10079
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.527e0

VQSLOD
type: SiteQuality
SIO_000300: -2.251e0

MQ
type: SiteQuality
SIO_000300: 5.902e1

QD
type: SiteQuality
SIO_000300: 6.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4