11-125547867-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547867
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547867
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.378A>C
  hgvsp: ENST00000315608.3:c.378A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-29A>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.168A>C
  hgvsp: ENST00000527795.1:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.378A>C
  hgvsp: ENST00000533904.1:c.378A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.168A>C
  hgvsp: ENST00000345274.1:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+17A>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.168A>C
  hgvsp: ENST00000453509.1:c.168A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.213A>C
  hgvsp: ENST00000530048.1:c.213A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+257A>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+257A>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly126Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-125547869-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547869
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547869
    reference: chr 11
allele count: 7463
allele frequency: 6.147041381128097e-2
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.166G>A
  hgvsp: ENSP00000436819.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+255G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.166G>A
  hgvsp: ENSP00000397448.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.211G>A
  hgvsp: ENSP00000433720.1:p.Gly71Arg
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.166G>A
  hgvsp: ENSP00000257383.2:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+15G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.376G>A
  hgvsp: ENSP00000432816.1:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+255G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.376G>A
  hgvsp: ENSP00000317684.3:p.Gly126Arg
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-31G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 7256
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7304
  bin: 9.75e1
  variant carriers: 6788
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.25e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 7.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly126Arg
num of homozygotes: 305
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-125547870-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547870
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547870
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-32C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.165C>G
  hgvsp: ENST00000453509.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.165C>G
  hgvsp: ENST00000527795.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.375C>G
  hgvsp: ENST00000533904.1:c.375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.165C>G
  hgvsp: ENST00000345274.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.375C>G
  hgvsp: ENST00000315608.3:c.375C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+254C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.210C>G
  hgvsp: ENST00000530048.1:c.210C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+14C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+254C>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser125Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

11-125547871-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547871
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547871
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+253C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+13C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.164C>A
  hgvsp: ENSP00000436819.1:p.Ser55Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.209C>A
  hgvsp: ENSP00000433720.1:p.Ser70Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.374C>A
  hgvsp: ENSP00000432816.1:p.Ser125Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-33C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.164C>A
  hgvsp: ENSP00000257383.2:p.Ser55Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.164C>A
  hgvsp: ENSP00000397448.1:p.Ser55Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.374C>A
  hgvsp: ENSP00000317684.3:p.Ser125Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+253C>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser125Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

11-125547873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547873
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547873
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+251C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.207C>T
  hgvsp: ENST00000530048.1:c.207C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.162C>T
  hgvsp: ENST00000345274.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.372C>T
  hgvsp: ENST00000533904.1:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+11C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.372C>T
  hgvsp: ENST00000315608.3:c.372C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-35C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.162C>T
  hgvsp: ENST00000453509.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.162C>T
  hgvsp: ENST00000527795.1:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+251C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4043
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu124Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-125547874-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547874
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547874
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-36T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.371T>A
  hgvsp: ENSP00000432816.1:p.Leu124His
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.161T>A
  hgvsp: ENSP00000257383.2:p.Leu54His
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.206T>A
  hgvsp: ENSP00000433720.1:p.Leu69His
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+250T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.371T>A
  hgvsp: ENSP00000317684.3:p.Leu124His
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.161T>A
  hgvsp: ENSP00000397448.1:p.Leu54His
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+10T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.161T>A
  hgvsp: ENSP00000436819.1:p.Leu54His
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+250T>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu124His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

11-125547876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547876
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547876
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.369C>T
  hgvsp: ENST00000533904.1:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.159C>T
  hgvsp: ENST00000345274.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.196+8C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.369C>T
  hgvsp: ENST00000315608.3:c.369C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+248C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-38C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.204C>T
  hgvsp: ENST00000530048.1:c.204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.159C>T
  hgvsp: ENST00000527795.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.159C>T
  hgvsp: ENST00000453509.1:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+248C>T
  variant of: http://identifiers.org/hgnc/127
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7131
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: c.196+8C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-125547882-ACCTGAAGGCTGTTCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547882
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547867
    reference: chr 11
allele count: 33
allele frequency: 2.718062762540153e-4
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsp: ENSP00000257383.2:p.Gln48_Glu52del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsp: ENSP00000432816.1:p.Gln118_Glu122del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsp: ENSP00000397448.1:p.Gln48_Glu52del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsp: ENSP00000317684.3:p.Gln118_Glu122del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsp: ENSP00000436819.1:p.Gln48_Glu52del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsp: ENSP00000433720.1:p.Gln63_Glu67del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
canonical: false
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 6.75e1
  variant carriers: 0
hgvs: c.183_196+1delAGAACAGCCTTCAGG
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: ACCTGAAGGCTGTTCT
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-125547885-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547885
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547885
    reference: chr 11
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+239A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.150A>T
  hgvsp: ENST00000453509.1:c.150A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.150A>T
  hgvsp: ENST00000527795.1:c.150A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.195A>T
  hgvsp: ENST00000348856.3:c.195A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.195A>T
  hgvsp: ENST00000530048.1:c.195A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.360A>T
  hgvsp: ENST00000315608.3:c.360A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.360A>T
  hgvsp: ENST00000533904.1:c.360A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.150A>T
  hgvsp: ENST00000345274.1:c.150A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-47A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+239A>T
  variant of: http://identifiers.org/hgnc/127
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3516
  bin: 9.25e1
  variant carriers: 0
hgvs: c.195A>T
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-125547889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547889
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547889
    reference: chr 11
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.146C>T
  hgvsp: ENSP00000436819.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.356C>T
  hgvsp: ENSP00000317684.3:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-51C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.356C>T
  hgvsp: ENSP00000432816.1:p.Pro119Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.146C>T
  hgvsp: ENSP00000257383.2:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.146C>T
  hgvsp: ENSP00000397448.1:p.Pro49Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+235C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.191C>T
  hgvsp: ENSP00000433720.1:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+235C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.191C>T
  hgvsp: ENSP00000257385.4:p.Pro64Leu
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23227
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro119Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-125547895-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547895
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547892
    reference: chr 11
allele count: 56
allele frequency: 4.613230084850482e-4
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.182_184delGAG
  hgvsp: ENSP00000257385.4:p.Gly61del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-60_122-58delGAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.347_349delGAG
  hgvsp: ENSP00000432816.1:p.Gly116del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.137_139delGAG
  hgvsp: ENSP00000257383.2:p.Gly46del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+226_121+228delGAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.137_139delGAG
  hgvsp: ENSP00000436819.1:p.Gly46del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.182_184delGAG
  hgvsp: ENSP00000433720.1:p.Gly61del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.347_349delGAG
  hgvsp: ENSP00000317684.3:p.Gly116del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+226_121+228delGAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.137_139delGAG
  hgvsp: ENSP00000397448.1:p.Gly46del
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15556
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly116del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: TCTC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

11-125547906-CTGCTCACCTACAGTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547906
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547891
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsp: ENSP00000317684.3:p.His108_Glu112del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsp: ENSP00000432816.1:p.His108_Glu112del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsp: ENSP00000433720.1:p.His53_Glu57del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsp: ENSP00000257385.4:p.His53_Glu57del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
canonical: false
consequence: splice acceptor
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 8.25e1
  variant carriers: 0
hgvs: c.122-8_128delTACTGTAGGTGAGCA
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: CTGCTCACCTACAGTA
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

11-125547921-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547921
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547921
    reference: chr 11
allele count: 111
allele frequency: 9.143177212895999e-4
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-8T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.324T>C
  hgvsp: ENST00000315608.3:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+203T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.159T>C
  hgvsp: ENST00000530048.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.159T>C
  hgvsp: ENST00000348856.3:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-8T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.324T>C
  hgvsp: ENST00000533904.1:c.324T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+203T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-8T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-83T>C
  variant of: http://identifiers.org/hgnc/127
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
hgvs: c.122-8T>C
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

11-125547927-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547927
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547927
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-14T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.318T>C
  hgvsp: ENST00000533904.1:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.153T>C
  hgvsp: ENST00000530048.1:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-89T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-14T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-14T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+197T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.318T>C
  hgvsp: ENST00000315608.3:c.318T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+197T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.153T>C
  hgvsp: ENST00000348856.3:c.153T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5772
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly106Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

11-125547945-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547945
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547945
    reference: chr 11
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.300G>A
  hgvsp: ENST00000315608.3:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+179G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.300G>A
  hgvsp: ENST00000533904.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-32G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-107G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.135G>A
  hgvsp: ENST00000530048.1:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-32G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.135G>A
  hgvsp: ENST00000348856.3:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+179G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-32G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8161
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala100Ala
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-125547946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547946
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547946
    reference: chr 11
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-108C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+178C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+178C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.134C>T
  hgvsp: ENSP00000257385.4:p.Ala45Val
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.299C>T
  hgvsp: ENSP00000317684.3:p.Ala100Val
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-33C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.299C>T
  hgvsp: ENSP00000432816.1:p.Ala100Val
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-33C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.134C>T
  hgvsp: ENSP00000433720.1:p.Ala45Val
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-33C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala100Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

11-125547950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547950
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547950
    reference: chr 11
allele count: 42
allele frequency: 3.459694558394702e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.130G>A
  hgvsp: ENSP00000257385.4:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.295G>A
  hgvsp: ENSP00000317684.3:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+174G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.295G>A
  hgvsp: ENSP00000432816.1:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-37G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-112G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+174G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-37G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.130G>A
  hgvsp: ENSP00000433720.1:p.Ala44Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-37G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12385
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala99Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

11-125547953-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547953
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547953
    reference: chr 11
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-40C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+171C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.127C>A
  hgvsp: ENSP00000257385.4:p.Pro43Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-40C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-115C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.292C>A
  hgvsp: ENSP00000317684.3:p.Pro98Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-40C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.127C>A
  hgvsp: ENSP00000433720.1:p.Pro43Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.292C>A
  hgvsp: ENSP00000432816.1:p.Pro98Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+171C>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5763
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro98Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

11-125547972-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547972
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547970
    reference: chr 11
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-16_122-15delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.122-136_122-135delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-61_122-60delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.271_272delAG
  hgvsp: ENSP00000317684.3:p.Ser91Ter
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.271_272delAG
  hgvsp: ENSP00000432816.1:p.Ser91Ter
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-61_122-60delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-16_122-15delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-61_122-60delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+150_121+151delAG
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+150_121+151delAG
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10194
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser91Ter
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: ACT
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-125547987-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547987
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547987
    reference: chr 11
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-29A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+137A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-74A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.258A>T
  hgvsp: ENST00000315608.3:c.258A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+137A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-29A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.258A>T
  hgvsp: ENST00000533904.1:c.258A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+137A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-74A>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-74A>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly86Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

11-125547993-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125547993
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125547993
    reference: chr 11
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-80T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.252T>C
  hgvsp: ENST00000315608.3:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+131T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-80T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-35T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+131T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-35T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.252T>C
  hgvsp: ENST00000533904.1:c.252T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+131T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-80T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15590
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr84Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

11-125548002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548002
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548002
    reference: chr 11
allele count: 5
allele frequency: 4.119837843182493e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-44C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+122C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-44C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.243C>T
  hgvsp: ENST00000533904.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.243C>T
  hgvsp: ENST00000315608.3:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-89C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-89C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+122C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-89C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+122C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala81Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-125548008-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548008
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548008
    reference: chr 11
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.237T>C
  hgvsp: ENST00000533904.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-95T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.237T>C
  hgvsp: ENST00000315608.3:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+116T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-95T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+116T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-95T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+116T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-50T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-50T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7098
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23110
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr79Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

11-125548018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548018
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548018
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.122-105G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-60G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.227G>A
  hgvsp: ENSP00000317684.3:p.Ser76Asn
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.122-105G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+106G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+106G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.122-105G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+106G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.227G>A
  hgvsp: ENSP00000432816.1:p.Ser76Asn
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-60G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser76Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-125548019-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548019
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548019
    reference: chr 11
allele count: 3
allele frequency: 2.471739775236463e-5
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+105A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+105A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.226A>G
  hgvsp: ENSP00000432816.1:p.Ser76Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+105A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.226A>G
  hgvsp: ENSP00000317684.3:p.Ser76Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+105A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-61A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+105A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-61A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+105A>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser76Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

11-125548020-TGAACCATGCTCACTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548020
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548005
    reference: chr 11
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsp: ENSP00000317684.3:p.Glu72_Ser76del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsp: ENSP00000432816.1:p.Glu72_Ser76del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu72_Ser76del
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: TGAACCATGCTCACTG
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/11-125548025-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548025
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548024
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-68delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-68delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+98delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+98delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+98delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+98delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.219delT
  hgvsp: ENSP00000432816.1:p.His73GlnfsTer38
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.219delT
  hgvsp: ENSP00000317684.3:p.His73GlnfsTer38
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+98delT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+98delT
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His73GlnfsTer38
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: CA
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

11-125548029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548029
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548029
    reference: chr 11
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.216G>A
  hgvsp: ENST00000315608.3:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-71G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+95G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+95G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+95G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-71G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+95G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.216G>A
  hgvsp: ENST00000533904.1:c.216G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+95G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+95G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23107
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu72Glu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-125548032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548032
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548032
    reference: chr 11
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-74T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-74T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+92T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+92T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.213T>C
  hgvsp: ENST00000533904.1:c.213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+92T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.213T>C
  hgvsp: ENST00000315608.3:c.213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+92T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+92T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+92T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser71Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-125548037-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548037
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548037
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+87T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+87T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.208T>A
  hgvsp: ENSP00000317684.3:p.Ser70Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+87T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+87T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+87T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.208T>A
  hgvsp: ENSP00000432816.1:p.Ser70Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+87T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.122-79T>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.122-79T>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser70Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

11-125548050-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548050
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548050
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.195A>G
  hgvsp: ENST00000315608.3:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.195A>G
  hgvsp: ENST00000533904.1:c.195A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+74A>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7092
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu65Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-125548056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548056
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548056
    reference: chr 11
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.189C>T
  hgvsp: ENST00000533904.1:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.189C>T
  hgvsp: ENST00000315608.3:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+68C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8134
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn63Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

11-125548059-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548059
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548059
    reference: chr 11
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.186G>C
  hgvsp: ENST00000533904.1:c.186G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.186G>C
  hgvsp: ENST00000315608.3:c.186G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+65G>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu62Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-125548069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548069
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548069
    reference: chr 11
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.176C>G
  hgvsp: ENSP00000317684.3:p.Ser59Cys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.176C>G
  hgvsp: ENSP00000432816.1:p.Ser59Cys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+55C>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15644
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser59Cys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

11-125548072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548072
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548072
    reference: chr 11
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.173C>T
  hgvsp: ENSP00000432816.1:p.Thr58Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.173C>T
  hgvsp: ENSP00000317684.3:p.Thr58Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+52C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr58Ile
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: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-125548076-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548076
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548074
    reference: chr 11
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.167_168delAT
  hgvsp: ENSP00000432816.1:p.Tyr56Ter
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.167_168delAT
  hgvsp: ENSP00000317684.3:p.Tyr56Ter
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+46_121+47delAT
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr56Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: CAT
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

11-125548088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548088
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548088
    reference: chr 11
allele count: 3
allele frequency: 2.475860361475613e-5
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.157G>A
  hgvsp: ENSP00000317684.3:p.Glu53Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.157G>A
  hgvsp: ENSP00000432816.1:p.Glu53Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+36G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7084
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu53Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

11-125548100-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548100
    reference: chr 11
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.145C>T
  hgvsp: ENSP00000317684.3:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.145C>T
  hgvsp: ENSP00000432816.1:p.Pro49Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+24C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro49Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum

11-125548100-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548100
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548100
    reference: chr 11
allele count: 2
allele frequency: 1.651664051531918e-5
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.145C>G
  hgvsp: ENSP00000317684.3:p.Pro49Ala
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.145C>G
  hgvsp: ENSP00000432816.1:p.Pro49Ala
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+24C>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15462
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23092
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro49Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

11-125548101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548101
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548101
    reference: chr 11
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.144C>T
  hgvsp: ENST00000315608.3:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.144C>T
  hgvsp: ENST00000533904.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+23C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7082
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asn48Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-125548108-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548108
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548108
    reference: chr 11
allele count: 54
allele frequency: 4.461777439931255e-4
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.137T>C
  hgvsp: ENSP00000317684.3:p.Leu46Pro
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+16T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.137T>C
  hgvsp: ENSP00000432816.1:p.Leu46Pro
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12083
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8097
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5325
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu46Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-125548113-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548113
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548110
    reference: chr 11
allele count: 19
allele frequency: 1.570118172051896e-4
allele num: 121010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.129_131delCTT
  hgvsp: ENSP00000432816.1:p.Phe44del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.129_131delCTT
  hgvsp: ENSP00000317684.3:p.Phe44del
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+8_121+10delCTT
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe44del
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: AAAG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

11-125548116-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548116
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548116
    reference: chr 11
allele count: 1
allele frequency: 8.268699664290793e-6
allele num: 120938
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.129C>A
  hgvsp: ENSP00000317684.3:p.Phe43Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.129C>A
  hgvsp: ENSP00000432816.1:p.Phe43Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+8C>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe43Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

11-125548123-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548123
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548123
    reference: chr 11
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.122G>C
  hgvsp: ENSP00000317684.3:p.Gly41Ala
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.122G>C
  hgvsp: ENSP00000432816.1:p.Gly41Ala
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.121+1G>C
  variant of: http://identifiers.org/hgnc/127
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7069
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3498
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.121+1G>C
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/11-125548138-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548138
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548138
    reference: chr 11
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.107T>G
  hgvsp: ENSP00000412653.1:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.107T>G
  hgvsp: ENSP00000257383.2:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.107T>G
  hgvsp: ENSP00000317684.3:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.107T>G
  hgvsp: ENSP00000433720.1:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.107T>G
  hgvsp: ENSP00000436819.1:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.107T>G
  hgvsp: ENSP00000257385.4:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.107T>G
  hgvsp: ENSP00000395453.1:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.107T>G
  hgvsp: ENSP00000257386.2:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.107T>G
  hgvsp: ENSP00000397448.1:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.107T>G
  hgvsp: ENSP00000432816.1:p.Val36Gly
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val36Gly
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

11-125548156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548156
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548156
    reference: chr 11
allele count: 2
allele frequency: 1.667083437526048e-5
allele num: 119970
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.89T>C
  hgvsp: ENSP00000433720.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.89T>C
  hgvsp: ENSP00000257385.4:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.89T>C
  hgvsp: ENSP00000257386.2:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.89T>C
  hgvsp: ENSP00000257383.2:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.89T>C
  hgvsp: ENSP00000436819.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.89T>C
  hgvsp: ENSP00000395453.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.89T>C
  hgvsp: ENSP00000317684.3:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.89T>C
  hgvsp: ENSP00000397448.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.89T>C
  hgvsp: ENSP00000412653.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.89T>C
  hgvsp: ENSP00000432816.1:p.Ile30Thr
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile30Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-125548165-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548165
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548165
    reference: chr 11
allele count: 1
allele frequency: 8.370442294170824e-6
allele num: 119468
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.80C>A
  hgvsp: ENSP00000257385.4:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.80C>A
  hgvsp: ENSP00000433720.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.80C>A
  hgvsp: ENSP00000257386.2:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.80C>A
  hgvsp: ENSP00000397448.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.80C>A
  hgvsp: ENSP00000257383.2:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.80C>A
  hgvsp: ENSP00000436819.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.80C>A
  hgvsp: ENSP00000412653.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.80C>A
  hgvsp: ENSP00000395453.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.80C>A
  hgvsp: ENSP00000317684.3:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.80C>A
  hgvsp: ENSP00000432816.1:p.Ser27Tyr
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser27Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

11-125548169-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548169
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548169
    reference: chr 11
allele count: 17
allele frequency: 1.42943629759182e-4
allele num: 118928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.76C>A
  hgvsp: ENSP00000395453.1:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.76C>A
  hgvsp: ENSP00000412653.1:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.76C>A
  hgvsp: ENSP00000317684.3:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.76C>A
  hgvsp: ENSP00000433720.1:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.76C>A
  hgvsp: ENSP00000397448.1:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.76C>A
  hgvsp: ENSP00000257386.2:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.76C>A
  hgvsp: ENSP00000432816.1:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.76C>A
  hgvsp: ENSP00000257385.4:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.76C>A
  hgvsp: ENSP00000436819.1:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.76C>A
  hgvsp: ENSP00000257383.2:p.Leu26Ile
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8051
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5318
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu26Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

11-125548170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548170
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548170
    reference: chr 11
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.75G>A
  hgvsp: ENST00000425431.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.75G>A
  hgvsp: ENST00000453509.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.75G>A
  hgvsp: ENST00000345274.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.75G>A
  hgvsp: ENST00000445562.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.75G>A
  hgvsp: ENST00000527795.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.75G>A
  hgvsp: ENST00000353070.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.75G>A
  hgvsp: ENST00000533904.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.75G>A
  hgvsp: ENST00000530048.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.75G>A
  hgvsp: ENST00000348856.3:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.75G>A
  hgvsp: ENST00000315608.3:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu25Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-125548172-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548172
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548172
    reference: chr 11
allele count: 1
allele frequency: 8.41609156707625e-6
allele num: 118820
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.73G>A
  hgvsp: ENSP00000432816.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.73G>A
  hgvsp: ENSP00000257385.4:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.73G>A
  hgvsp: ENSP00000397448.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.73G>A
  hgvsp: ENSP00000412653.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.73G>A
  hgvsp: ENSP00000433720.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.73G>A
  hgvsp: ENSP00000436819.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.73G>A
  hgvsp: ENSP00000317684.3:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.73G>A
  hgvsp: ENSP00000257386.2:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.73G>A
  hgvsp: ENSP00000395453.1:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.73G>A
  hgvsp: ENSP00000257383.2:p.Glu25Lys
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu25Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

11-125548180-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548180
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548180
    reference: chr 11
allele count: 1
allele frequency: 8.471130387638926e-6
allele num: 118048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.65A>T
  hgvsp: ENSP00000317684.3:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.65A>T
  hgvsp: ENSP00000433720.1:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.65A>T
  hgvsp: ENSP00000257386.2:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.65A>T
  hgvsp: ENSP00000412653.1:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.65A>T
  hgvsp: ENSP00000257383.2:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.65A>T
  hgvsp: ENSP00000432816.1:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.65A>T
  hgvsp: ENSP00000436819.1:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.65A>T
  hgvsp: ENSP00000395453.1:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.65A>T
  hgvsp: ENSP00000397448.1:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.65A>T
  hgvsp: ENSP00000257385.4:p.Gln22Leu
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln22Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

11-125548190-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548190
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548190
    reference: chr 11
allele count: 1
allele frequency: 8.542043940274029e-6
allele num: 117068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.55A>T
  hgvsp: ENSP00000433720.1:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.55A>T
  hgvsp: ENSP00000257385.4:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.55A>T
  hgvsp: ENSP00000317684.3:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.55A>T
  hgvsp: ENSP00000436819.1:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.55A>T
  hgvsp: ENSP00000432816.1:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.55A>T
  hgvsp: ENSP00000257386.2:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.55A>T
  hgvsp: ENSP00000395453.1:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.55A>T
  hgvsp: ENSP00000397448.1:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.55A>T
  hgvsp: ENSP00000412653.1:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.55A>T
  hgvsp: ENSP00000257383.2:p.Thr19Ser
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr19Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

11-125548192-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548192
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548192
    reference: chr 11
allele count: 153
allele frequency: 1.310357821894109e-3
allele num: 116762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53G>A
  hgvsp: ENSP00000257383.2:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53G>A
  hgvsp: ENSP00000433720.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53G>A
  hgvsp: ENSP00000257385.4:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53G>A
  hgvsp: ENSP00000436819.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53G>A
  hgvsp: ENSP00000257386.2:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53G>A
  hgvsp: ENSP00000397448.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53G>A
  hgvsp: ENSP00000412653.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53G>A
  hgvsp: ENSP00000432816.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53G>A
  hgvsp: ENSP00000395453.1:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53G>A
  hgvsp: ENSP00000317684.3:p.Gly18Glu
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9944
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8015
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 9.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Gly18Glu
num of homozygotes: 2
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-125548198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548198
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548198
    reference: chr 11
allele count: 1
allele frequency: 8.614451604010888e-6
allele num: 116084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-6T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
hgvs: c.53-6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-125548205-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548205
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548205
    reference: chr 11
allele count: 4
allele frequency: 3.462543931026125e-5
allele num: 115522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-13T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3857
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7033
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

11-125548217-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548217
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548217
    reference: chr 11
allele count: 2
allele frequency: 1.745657676529633e-5
allele num: 114570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-25C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-125548218-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548218
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548218
    reference: chr 11
allele count: 1
allele frequency: 8.744469123279526e-6
allele num: 114358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-26T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP

11-125548219-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548219
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548219
    reference: chr 11
allele count: 1
allele frequency: 8.747834910859562e-6
allele num: 114314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-27C>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum

11-125548223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548223
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548223
    reference: chr 11
allele count: 6
allele frequency: 5.274910766092873e-5
allele num: 113746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-31C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4609
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/11-125548226-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548226
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548226
    reference: chr 11
allele count: 2
allele frequency: 1.769723569178494e-5
allele num: 113012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-34T>G
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7955
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-125548234-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125548234
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125548234
    reference: chr 11
allele count: 1
allele frequency: 8.975049362771496e-6
allele num: 111420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.53-42T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 8.75e1
  variant carriers: 0
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: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-125550586-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550586
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550586
    reference: chr 11
allele count: 28
allele frequency: 2.310307270867025e-4
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+38G>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21617
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

11-125550592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550592
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550592
    reference: chr 11
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+32C>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21601
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

11-125550594-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550594
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550594
    reference: chr 11
allele count: 4
allele frequency: 3.299513321785036e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+30T>C
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21601
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-125550607-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550607
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550607
    reference: chr 11
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+17G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3793
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21599
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

11-125550621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550621
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550621
    reference: chr 11
allele count: 46
allele frequency: 3.791437944051564e-4
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+3G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21602
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2413
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5083
  bin: 6.25e1
  variant carriers: 0
hgvs: c.52+3G>A
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-125550623-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550623
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550623
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+1G>T
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21593
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: c.52+1G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

11-125550623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550623
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550623
    reference: chr 11
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.52+1G>A
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21593
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: c.52+1G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-125550627-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 125550627
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 125550627
    reference: chr 11
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000432816
  ensembl transcript: ENST00000533904
  gene symbol: ACRV1
  hgvsc: ENST00000533904.1:c.49A>C
  hgvsp: ENST00000533904.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257385
  ensembl transcript: ENST00000348856
  gene symbol: ACRV1
  hgvsc: ENST00000348856.3:c.49A>C
  hgvsp: ENST00000348856.3:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257386
  ensembl transcript: ENST00000353070
  gene symbol: ACRV1
  hgvsc: ENST00000353070.1:c.49A>C
  hgvsp: ENST00000353070.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000412653
  ensembl transcript: ENST00000445562
  gene symbol: ACRV1
  hgvsc: ENST00000445562.1:c.49A>C
  hgvsp: ENST00000445562.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000395453
  ensembl transcript: ENST00000425431
  gene symbol: ACRV1
  hgvsc: ENST00000425431.1:c.49A>C
  hgvsp: ENST00000425431.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000436819
  ensembl transcript: ENST00000527795
  gene symbol: ACRV1
  hgvsc: ENST00000527795.1:c.49A>C
  hgvsp: ENST00000527795.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000317684
  ensembl transcript: ENST00000315608
  gene symbol: ACRV1
  hgvsc: ENST00000315608.3:c.49A>C
  hgvsp: ENST00000315608.3:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000257383
  ensembl transcript: ENST00000345274
  gene symbol: ACRV1
  hgvsc: ENST00000345274.1:c.49A>C
  hgvsp: ENST00000345274.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000433720
  ensembl transcript: ENST00000530048
  gene symbol: ACRV1
  hgvsc: ENST00000530048.1:c.49A>C
  hgvsp: ENST00000530048.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134940
  ensembl protein: ENSP00000397448
  ensembl transcript: ENST00000453509
  gene symbol: ACRV1
  hgvsc: ENST00000453509.1:c.49A>C
  hgvsp: ENST00000453509.1:c.49A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3040
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3794
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg17Arg
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 26198
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 3325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5213
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 14135
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3676
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1970
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2437
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.151e0

MQRankSum
type: SiteQuality
SIO_000300: 8.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e-1

DP
type: SiteQuality
SIO_000300: 2.516102e6

MQ
type: SiteQuality
SIO_000300: 5.991e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.118e1

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

GenotypeQuality
all individuals: 5055
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13803
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 27547
bin: 9.75e1
variant carriers: 7158

GenotypeQuality
all individuals: 3468
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3121
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2320
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1814
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4731
allele frequency: 7.088702427329938e-2
allele num: 66740
num of homozygotes: 176

European (Finnish)
type: Population
allele count: 304
allele frequency: 4.596310855760508e-2
allele num: 6614
num of homozygotes: 7

Latino
type: Population
allele count: 446
allele frequency: 3.853464662173838e-2
allele num: 11574
num of homozygotes: 13

South Asian
type: Population
allele count: 665
allele frequency: 4.027374031007752e-2
allele num: 16512
num of homozygotes: 31

East Asian
type: Population
allele count: 4
allele frequency: 4.622140050843541e-4
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 1262
allele frequency: 1.212761868152989e-1
allele num: 10406
num of homozygotes: 76

Other
type: Population
allele count: 51
allele frequency: 5.616740088105727e-2
allele num: 908
num of homozygotes: 2

DP
type: SiteQuality
SIO_000300: 3.42371e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.25e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.467e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

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

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23229
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15572
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2045
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.006e0

FS
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

DP
type: SiteQuality
SIO_000300: 2.398664e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

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

GenotypeQuality
all individuals: 15573
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 5772
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4043
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3518
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23228
bin: 9.75e1
variant carriers: 1

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

DP
type: SiteQuality
SIO_000300: 2.398592e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.313000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.748e0

VQSLOD
type: SiteQuality
SIO_000300: -4.67e-2

QD
type: SiteQuality
SIO_000300: 1.234e1

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

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

GenotypeQuality
all individuals: 3517
bin: 9.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 23228
bin: 9.75e1
variant carriers: 1

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

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

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

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

GenotypeQuality
all individuals: 5771
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2614
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2045
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

DP
type: SiteQuality
SIO_000300: 2.39851e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.362e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.814e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.946e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

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

GenotypeQuality
all individuals: 15575
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23227
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5771
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3910
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4043
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3517
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

VQSLOD
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.989e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 1.12e-1

QD
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MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

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

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

Latino
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allele count: 31
allele frequency: 2.677954388389772e-3
allele num: 11576
num of homozygotes: 0

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

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

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

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

FS
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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VQSLOD
type: SiteQuality
SIO_000300: -7.820000000000001e-2

BaseQRankSum
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SIO_000300: 3.23e-1

ReadPosRankSum
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SIO_000300: -4.05e-1

QD
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ClippingRankSum
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SIO_000300: -3.65e-1

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

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

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

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

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.179e0

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

DP
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SIO_000300: 2.39968e6

QD
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SIO_000300: 1.416e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 2.064e0

MQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11558
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

DP
type: SiteQuality
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BaseQRankSum
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SIO_000300: 6.889999999999999e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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MQRankSum
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VQSLOD
type: SiteQuality
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FS
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 54
allele frequency: 3.270348837209302e-3
allele num: 16512
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 1
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allele num: 908
num of homozygotes: 0

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

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

African
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num of homozygotes: 0

South Asian
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Latino
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East Asian
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European (Finnish)
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VQSLOD
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ReadPosRankSum
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MQRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
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allele frequency: 2.996793431028799e-5
allele num: 66738
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South Asian
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allele frequency: 6.419573643410853e-3
allele num: 16512
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Other
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European (Finnish)
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East Asian
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African
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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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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Other
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South Asian
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

BaseQRankSum
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SIO_000300: 3.21e0

ClippingRankSum
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DP
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QD
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SIO_000300: 1.572e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.72e-1

FS
type: SiteQuality
SIO_000300: 5.766e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

East Asian
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allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

QD
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MQ
type: SiteQuality
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MQRankSum
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FS
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DP
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InbreedingCoeff
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SIO_000300: 7.1e-3

VQSLOD
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BaseQRankSum
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SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

QD
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SIO_000300: 1.382e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.715e0

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
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SIO_000300: 2.393997e6

GenotypeQuality
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GenotypeQuality
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variant carriers: 42

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

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

African
type: Population
allele count: 39
allele frequency: 3.747837785892754e-3
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

DP
type: SiteQuality
SIO_000300: 2.39483e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

QD
type: SiteQuality
SIO_000300: 1.503e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.84e-2

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.6838e1

BaseQRankSum
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SIO_000300: -1.626e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.392287e6

GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.391831e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
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allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.734e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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African
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South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
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allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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African
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MQ
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DP
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FS
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QD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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East Asian
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FS
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MQ
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VQSLOD
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DP
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QD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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Other
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East Asian
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FS
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ClippingRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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East Asian
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European (Finnish)
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South Asian
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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MQRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Other
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Latino
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European (Finnish)
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East Asian
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MQ
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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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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African
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South Asian
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East Asian
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European (Non-Finnish)
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European (Finnish)
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MQ
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FS
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ReadPosRankSum
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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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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African
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East Asian
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European (Non-Finnish)
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South Asian
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European (Finnish)
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InbreedingCoeff
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MQRankSum
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QD
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DP
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MQ
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ReadPosRankSum
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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InbreedingCoeff
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ClippingRankSum
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QD
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MQ
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MQRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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East Asian
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European (Finnish)
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African
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Other
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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QD
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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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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Latino
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Other
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East Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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Other
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East Asian
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ReadPosRankSum
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VQSLOD
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DP
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QD
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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QD
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SIO_000300: 1.475e1

ClippingRankSum
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InbreedingCoeff
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FS
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SIO_000300: 3.72e0

MQRankSum
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DP
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
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ReadPosRankSum
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SIO_000300: 5.03e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele num: 10380
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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Other
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Latino
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European (Finnish)
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DP
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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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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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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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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South Asian
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African
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allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.459e0

QD
type: SiteQuality
SIO_000300: 1.276e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.382104e6

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 2.382104e6

VQSLOD
type: SiteQuality
SIO_000300: 5.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.459e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.276e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.403e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.572e0

DP
type: SiteQuality
SIO_000300: 2.381634e6

VQSLOD
type: SiteQuality
SIO_000300: -1.868e0

MQRankSum
type: SiteQuality
SIO_000300: -2.546e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 54

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3499
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 43
allele frequency: 4.17070805043647e-3
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.462603878116343e-4
allele num: 11552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.635482307319437e-4
allele num: 16504
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.381594e6

QD
type: SiteQuality
SIO_000300: 1.428e1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 3972
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GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 5540
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 2029
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variant carriers: 0

GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 3499
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GenotypeQuality
all individuals: 23083
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 46
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GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 3862
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2555
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GenotypeQuality
all individuals: 15486
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.857916428506964e-4
allele num: 66482
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.708e1

MQRankSum
type: SiteQuality
SIO_000300: -1.182e0

MQ
type: SiteQuality
SIO_000300: 5.644e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

DP
type: SiteQuality
SIO_000300: 2.379783e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

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

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 23070
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3499
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.65e-1

DP
type: SiteQuality
SIO_000300: 2.378059e6

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.586e0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 2539
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

QD
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SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

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

FS
type: SiteQuality
SIO_000300: 1.586e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2514
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 2.99e0

DP
type: SiteQuality
SIO_000300: 2.372334e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.021e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1360
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GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 67
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 2481
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 23062
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
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: 1.518925815663163e-5
allele num: 65836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.116207951070337e-5
allele num: 16350
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

QD
type: SiteQuality
SIO_000300: 1.491e1

FS
type: SiteQuality
SIO_000300: 3.251e0

DP
type: SiteQuality
SIO_000300: 2.358083e6

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3495
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2020
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.365e0

DP
type: SiteQuality
SIO_000300: 2.348847e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.654e-1

QD
type: SiteQuality
SIO_000300: 1.607e1

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3838
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.25e1
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: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.808550185873606e-4
allele num: 8608
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.837222120154327e-4
allele num: 65316
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.457e0

MQRankSum
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 2.340595e6

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.188e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13408
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23046
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3900
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.003613006824568e-4
allele num: 9964
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65298
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.716e0

DP
type: SiteQuality
SIO_000300: 2.33988e6

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeQuality
all individuals: 3840
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13416
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 5144
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2024
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65256
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -4.952e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 9.859999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.834e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.338002e6

GenotypeQuality
all individuals: 368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

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

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 12652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540120129370091e-5
allele num: 64930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 4.608e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 2.324446e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

QD
type: SiteQuality
SIO_000300: 1.459e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e-3

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

GenotypeQuality
all individuals: 450
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2019
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3855
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551060925673161e-5
allele num: 64472
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 2.306469e6

QD
type: SiteQuality
SIO_000300: 1.698e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeDepth
all individuals: 3749
bin: 5.25e1
variant carriers: 4

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23075
bin: 9.75e1
variant carriers: 151

GenotypeQuality
all individuals: 230
bin: 3.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 2014
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variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3845
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4861
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3804
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.545454545454545e-3
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.048760499897562e-4
allele num: 9762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

East Asian
type: Population
allele count: 147
allele frequency: 1.710495694670701e-2
allele num: 8594
num of homozygotes: 2

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64356
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 2.306586e6

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2340
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23002
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3800
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4752
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10625
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559916388481577e-5
allele num: 64106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14728
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 2.271e0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 2.285115e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 121
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2009
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variant carriers: 0

GenotypeQuality
all individuals: 9995
bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 3798
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variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.257430698955009e-5
allele num: 63924
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.205e1

FS
type: SiteQuality
SIO_000300: 6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

DP
type: SiteQuality
SIO_000300: 2.270936e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 5385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
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variant carriers: 0

GenotypeQuality
all individuals: 3762
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 3765
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 644
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 147
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.143764343424817e-5
allele num: 63618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.249712e6

FS
type: SiteQuality
SIO_000300: 1.893e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

GenotypeQuality
all individuals: 5286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2263
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2002
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variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 3764
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variant carriers: 0

GenotypeQuality
all individuals: 184
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variant carriers: 0

GenotypeQuality
all individuals: 146
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variant carriers: 0

GenotypeQuality
all individuals: 524
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GenotypeQuality
all individuals: 8698
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variant carriers: 0

GenotypeQuality
all individuals: 3761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 22985
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.573811772112056e-5
allele num: 63540
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.881e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.472e0

DP
type: SiteQuality
SIO_000300: 2.246007e6

GenotypeQuality
all individuals: 741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8759
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 3762
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 929
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
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variant carriers: 0

GenotypeQuality
all individuals: 22984
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 2265
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variant carriers: 0

GenotypeQuality
all individuals: 3479
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574456025443209e-5
allele num: 63514
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.062e-1

DP
type: SiteQuality
SIO_000300: 2.245699e6

FS
type: SiteQuality
SIO_000300: 6.785e0

QD
type: SiteQuality
SIO_000300: 1.149e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 22985
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 889
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2248
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variant carriers: 0

GenotypeQuality
all individuals: 1998
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variant carriers: 0

GenotypeQuality
all individuals: 278
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variant carriers: 0

GenotypeQuality
all individuals: 964
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8276
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.890168849613381e-5
allele num: 63370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.413e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.237317e6

GenotypeQuality
all individuals: 460
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1997
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3472
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1094
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7625
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variant carriers: 0

GenotypeQuality
all individuals: 1254
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variant carriers: 0

GenotypeQuality
all individuals: 164
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GenotypeQuality
all individuals: 4148
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GenotypeQuality
all individuals: 996
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variant carriers: 0

GenotypeQuality
all individuals: 288
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GenotypeQuality
all individuals: 3741
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22982
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 306
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3707
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.166661388897685e-5
allele num: 63158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.378e1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

DP
type: SiteQuality
SIO_000300: 2.226363e6

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22974
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3468
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12054
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.596831885539091e-5
allele num: 62624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.522e0

MQRankSum
type: SiteQuality
SIO_000300: -3.73e-1

DP
type: SiteQuality
SIO_000300: 2.204552e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
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MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

QD
type: SiteQuality
SIO_000300: 5.52e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 28

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 3.850596842510589e-4
allele num: 10388
num of homozygotes: 0

East Asian
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allele count: 24
allele frequency: 2.77713492247165e-3
allele num: 8642
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 1.99e0

ReadPosRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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MQ
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MQRankSum
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BaseQRankSum
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SIO_000300: -4.1e0

ClippingRankSum
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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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East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.68e-2

VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

DP
type: SiteQuality
SIO_000300: 5.045929e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.001680470531749e-5
allele num: 66648
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.945e1

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -8.28e-1

MQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.046889e6

BaseQRankSum
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InbreedingCoeff
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SIO_000300: 7.7e-3

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

African
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allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -2.63e-2

BaseQRankSum
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: -1.518e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 45
allele frequency: 6.747233634209974e-4
allele num: 66694
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
num of homozygotes: 0

Other
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Latino
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South Asian
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African
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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