11-47500478-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500478
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500478
    reference: chr 11
allele count: 1
allele frequency: 9.508234130757236e-6
allele num: 105172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.702T>A
  hgvsp: ENST00000361904.3:c.702T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.702T>A
  hgvsp: ENST00000310513.5:c.702T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.714T>A
  hgvsp: ENST00000358597.3:c.714T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.711T>A
  hgvsp: ENST00000395290.2:c.711T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.374T>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.795T>A
  hgvsp: ENST00000531165.1:c.795T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.702T>A
  hgvsp: ENST00000395292.2:c.702T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.792T>A
  hgvsp: ENST00000532048.1:c.792T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7884
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr264Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

11-47500490-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500490
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500490
    reference: chr 11
allele count: 308
allele frequency: 3.024114366506952e-3
allele num: 101848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.362C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.690C>T
  hgvsp: ENST00000361904.3:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.690C>T
  hgvsp: ENST00000395292.2:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.702C>T
  hgvsp: ENST00000358597.3:c.702C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.780C>T
  hgvsp: ENST00000532048.1:c.780C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.783C>T
  hgvsp: ENST00000531165.1:c.783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.690C>T
  hgvsp: ENST00000310513.5:c.690C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.699C>T
  hgvsp: ENST00000395290.2:c.699C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9417
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9939
  bin: 2.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22929
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 1
hgvs: c.690C>T
num of homozygotes: 2
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

11-47500493-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500493
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500493
    reference: chr 11
allele count: 1
allele frequency: 9.955399808856324e-6
allele num: 100448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.780G>C
  hgvsp: ENSP00000436864.1:p.Gln260His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.699G>C
  hgvsp: ENSP00000351409.3:p.Gln233His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.777G>C
  hgvsp: ENSP00000435926.1:p.Gln259His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.359G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-1G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-1G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-1G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.696G>C
  hgvsp: ENSP00000378705.2:p.Gln232His
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8622
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
hgvs: c.688-1G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/11-47500518-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500518
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500519
    reference: chr 11
allele count: 2
allele frequency: 2.277022565293622e-5
allele num: 87834
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.685-15dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-27dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.688-15dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-27dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.348-15dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.766-15dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-27dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.769-15dupT
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18780
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25628
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3529
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

11-47500535-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500535
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500536
    reference: chr 11
allele count: 1
allele frequency: 1.274697259400892e-5
allele num: 78450
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-44dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-44dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.769-32dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-44dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.348-32dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.685-32dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.688-32dupA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.766-32dupA
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20809
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16972
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

11-47500536-T-TGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500536
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500538
    reference: chr 11
allele count: 1
allele frequency: 1.277400235041643e-5
allele num: 78284
alternate allele: TGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.348-34_348-33dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.766-34_766-33dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-46_688-45dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.769-34_769-33dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.688-34_688-33dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.685-34_685-33dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-46_688-45dupTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-46_688-45dupTC
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
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: T
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-47500536-TGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500536
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500534
    reference: chr 11
allele count: 1
allele frequency: 1.277400235041643e-5
allele num: 78284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.688-34_688-33delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.685-34_685-33delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.348-34_348-33delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.769-34_769-33delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-46_688-45delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-46_688-45delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.766-34_766-33delTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-46_688-45delTC
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: TGA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP

11-47500538-AGAGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500538
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500534
    reference: chr 11
allele count: 1
allele frequency: 1.300119611004212e-5
allele num: 76916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-50_688-47delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.685-38_685-35delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-50_688-47delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.688-38_688-35delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.348-38_348-35delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-50_688-47delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.766-38_766-35delACTC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.769-38_769-35delACTC
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20315
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: AGAGT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

11-47500551-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47500551
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47500551
    reference: chr 11
allele count: 1
allele frequency: 1.479508803077378e-5
allele num: 67590
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.766-47C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.685-47C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.688-59C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.688-47C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.688-59C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.769-47C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.348-47C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.688-59C>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17079
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

11-47504202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504202
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504202
    reference: chr 11
allele count: 2
allele frequency: 1.695604991861096e-5
allele num: 117952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.687+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.687+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.768+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.687+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.687+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.765+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.265G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.684+45G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.347+45G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

11-47504209-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504209
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504209
    reference: chr 11
allele count: 47
allele frequency: 3.982510845986985e-4
allele num: 118016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.768+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.347+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.687+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.258G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.687+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.765+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.687+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.684+38G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.687+38G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 27804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37768
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

11-47504212-GCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504212
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504210
    reference: chr 11
allele count: 1
allele frequency: 8.456087537418188e-6
allele num: 118258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.768+33_768+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.687+33_687+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.765+33_765+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.347+33_347+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.684+33_684+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.687+33_687+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.253_254delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.687+33_687+34delTG
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.687+33_687+34delTG
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: GCA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ

11-47504215-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504215
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504215
    reference: chr 11
allele count: 1
allele frequency: 8.454085859695991e-6
allele num: 118286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.252G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.347+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.687+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.684+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.765+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.687+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.687+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.687+32G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.768+32G>C
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

11-47504215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504215
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504215
    reference: chr 11
allele count: 1
allele frequency: 8.454085859695991e-6
allele num: 118286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.252G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.684+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.687+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.687+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.765+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.768+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.687+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.347+32G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.687+32G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

11-47504224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504224
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504224
    reference: chr 11
allele count: 1
allele frequency: 8.410004541402452e-6
allele num: 118906
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.687+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.765+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.687+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.243C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.347+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.768+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.687+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.684+23C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.687+23C>T
  variant of: http://identifiers.org/hgnc/2549
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-47504260-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504260
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504260
    reference: chr 11
allele count: 2
allele frequency: 1.650791554550407e-5
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.674C>A
  hgvsp: ENSP00000378706.2:p.Pro225His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.674C>A
  hgvsp: ENSP00000354639.3:p.Pro225His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.671C>A
  hgvsp: ENSP00000378705.2:p.Pro224His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.207C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.674C>A
  hgvsp: ENSP00000308386.5:p.Pro225His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.674C>A
  hgvsp: ENSP00000351409.3:p.Pro225His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.334C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.755C>A
  hgvsp: ENSP00000436864.1:p.Pro252His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.752C>A
  hgvsp: ENSP00000435926.1:p.Pro251His
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro251His
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-47504273-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504273
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504273
    reference: chr 11
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.661A>C
  hgvsp: ENSP00000308386.5:p.Asn221His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.661A>C
  hgvsp: ENSP00000378706.2:p.Asn221His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.661A>C
  hgvsp: ENSP00000354639.3:p.Asn221His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.742A>C
  hgvsp: ENSP00000436864.1:p.Asn248His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.658A>C
  hgvsp: ENSP00000378705.2:p.Asn220His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.739A>C
  hgvsp: ENSP00000435926.1:p.Asn247His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.661A>C
  hgvsp: ENSP00000351409.3:p.Asn221His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.321A>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.194A>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn247His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-47504276-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504276
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504276
    reference: chr 11
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.658C>G
  hgvsp: ENSP00000308386.5:p.Leu220Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.736C>G
  hgvsp: ENSP00000435926.1:p.Leu246Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.658C>G
  hgvsp: ENSP00000378706.2:p.Leu220Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.658C>G
  hgvsp: ENSP00000354639.3:p.Leu220Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.658C>G
  hgvsp: ENSP00000351409.3:p.Leu220Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.739C>G
  hgvsp: ENSP00000436864.1:p.Leu247Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.655C>G
  hgvsp: ENSP00000378705.2:p.Leu219Val
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.191C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.318C>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12757
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu246Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-47504298-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504298
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504298
    reference: chr 11
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.296T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.636T>G
  hgvsp: ENST00000361904.3:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.636T>G
  hgvsp: ENST00000395292.2:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.717T>G
  hgvsp: ENST00000531165.1:c.717T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.714T>G
  hgvsp: ENST00000532048.1:c.714T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.633T>G
  hgvsp: ENST00000395290.2:c.633T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.636T>G
  hgvsp: ENST00000358597.3:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.636T>G
  hgvsp: ENST00000310513.5:c.636T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.169T>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12761
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3499
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ser238Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

11-47504304-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504304
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504304
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.630A>G
  hgvsp: ENST00000358597.3:c.630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.630A>G
  hgvsp: ENST00000395292.2:c.630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.627A>G
  hgvsp: ENST00000395290.2:c.627A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.630A>G
  hgvsp: ENST00000310513.5:c.630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.711A>G
  hgvsp: ENST00000531165.1:c.711A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.163A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.630A>G
  hgvsp: ENST00000361904.3:c.630A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.708A>G
  hgvsp: ENST00000532048.1:c.708A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.290A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12750
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala236Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

11-47504306-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504306
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504306
    reference: chr 11
allele count: 20
allele frequency: 1.647663612996771e-4
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.709G>A
  hgvsp: ENSP00000436864.1:p.Ala237Thr
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.628G>A
  hgvsp: ENSP00000308386.5:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.706G>A
  hgvsp: ENSP00000435926.1:p.Ala236Thr
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.628G>A
  hgvsp: ENSP00000378706.2:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.625G>A
  hgvsp: ENSP00000378705.2:p.Ala209Thr
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.161G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.628G>A
  hgvsp: ENSP00000351409.3:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.288G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.628G>A
  hgvsp: ENSP00000354639.3:p.Ala210Thr
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala236Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

11-47504307-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504307
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504307
    reference: chr 11
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.624C>T
  hgvsp: ENST00000395290.2:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.708C>T
  hgvsp: ENST00000531165.1:c.708C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.627C>T
  hgvsp: ENST00000358597.3:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.705C>T
  hgvsp: ENST00000532048.1:c.705C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.627C>T
  hgvsp: ENST00000310513.5:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.627C>T
  hgvsp: ENST00000395292.2:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.627C>T
  hgvsp: ENST00000361904.3:c.627C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.287C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.160C>T
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser235Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-47504322-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504322
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504322
    reference: chr 11
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.612G>T
  hgvsp: ENSP00000351409.3:p.Gln204His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.609G>T
  hgvsp: ENSP00000378705.2:p.Gln203His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.693G>T
  hgvsp: ENSP00000436864.1:p.Gln231His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.612G>T
  hgvsp: ENSP00000354639.3:p.Gln204His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.612G>T
  hgvsp: ENSP00000378706.2:p.Gln204His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.145G>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.690G>T
  hgvsp: ENSP00000435926.1:p.Gln230His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.612G>T
  hgvsp: ENSP00000308386.5:p.Gln204His
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.272G>T
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2017
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln230His
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

11-47504323-TGCTGCTGGA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504323
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504314
    reference: chr 11
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.602_610delTCCAGCAGC
  hgvsp: ENSP00000308386.5:p.Leu201_Gln203del
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.680_688delTCCAGCAGC
  hgvsp: ENSP00000435926.1:p.Leu227_Gln229del
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.599_607delTCCAGCAGC
  hgvsp: ENSP00000378705.2:p.Leu200_Gln202del
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.602_610delTCCAGCAGC
  hgvsp: ENSP00000354639.3:p.Leu201_Gln203del
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.602_610delTCCAGCAGC
  hgvsp: ENSP00000351409.3:p.Leu201_Gln203del
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.135_143delTCCAGCAGC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.602_610delTCCAGCAGC
  hgvsp: ENSP00000378706.2:p.Leu201_Gln203del
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.262_270delTCCAGCAGC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.683_691delTCCAGCAGC
  hgvsp: ENSP00000436864.1:p.Leu228_Gln230del
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu227_Gln229del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: TGCTGCTGGA
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

11-47504325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504325
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504325
    reference: chr 11
allele count: 8
allele frequency: 6.591306067297235e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.609G>A
  hgvsp: ENST00000395292.2:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.690G>A
  hgvsp: ENST00000531165.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.609G>A
  hgvsp: ENST00000361904.3:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.687G>A
  hgvsp: ENST00000532048.1:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.606G>A
  hgvsp: ENST00000395290.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.269G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.609G>A
  hgvsp: ENST00000358597.3:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.609G>A
  hgvsp: ENST00000310513.5:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.142G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7994
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln229Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

11-47504352-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504352
    reference: chr 11
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.582G>A
  hgvsp: ENST00000358597.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.663G>A
  hgvsp: ENST00000531165.1:c.663G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.579G>A
  hgvsp: ENST00000395290.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.242G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.582G>A
  hgvsp: ENST00000361904.3:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.115G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.660G>A
  hgvsp: ENST00000532048.1:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.582G>A
  hgvsp: ENST00000395292.2:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.582G>A
  hgvsp: ENST00000310513.5:c.582G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln220Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

11-47504355-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504355
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504355
    reference: chr 11
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.579A>G
  hgvsp: ENST00000395292.2:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.660A>G
  hgvsp: ENST00000531165.1:c.660A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.579A>G
  hgvsp: ENST00000310513.5:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.576A>G
  hgvsp: ENST00000395290.2:c.576A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.657A>G
  hgvsp: ENST00000532048.1:c.657A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.112A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.579A>G
  hgvsp: ENST00000358597.3:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.579A>G
  hgvsp: ENST00000361904.3:c.579A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.239A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7903
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu219Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

11-47504365-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504365
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504365
    reference: chr 11
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.569A>T
  hgvsp: ENSP00000354639.3:p.Lys190Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.647A>T
  hgvsp: ENSP00000435926.1:p.Lys216Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.569A>T
  hgvsp: ENSP00000351409.3:p.Lys190Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.102A>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.566A>T
  hgvsp: ENSP00000378705.2:p.Lys189Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.229A>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.650A>T
  hgvsp: ENSP00000436864.1:p.Lys217Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.569A>T
  hgvsp: ENSP00000378706.2:p.Lys190Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.569A>T
  hgvsp: ENSP00000308386.5:p.Lys190Met
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys216Met
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-47504376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504376
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504376
    reference: chr 11
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.555T>C
  hgvsp: ENST00000395290.2:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.639T>C
  hgvsp: ENST00000531165.1:c.639T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.558T>C
  hgvsp: ENST00000358597.3:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.636T>C
  hgvsp: ENST00000532048.1:c.636T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.558T>C
  hgvsp: ENST00000310513.5:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.218T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.558T>C
  hgvsp: ENST00000361904.3:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.558T>C
  hgvsp: ENST00000395292.2:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.91T>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala212Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-47504400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504400
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504400
    reference: chr 11
allele count: 3
allele frequency: 2.483279253029601e-5
allele num: 120808
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.531A>G
  hgvsp: ENST00000395290.2:c.531A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.534A>G
  hgvsp: ENST00000358597.3:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.534A>G
  hgvsp: ENST00000395292.2:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.194A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.534A>G
  hgvsp: ENST00000361904.3:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.615A>G
  hgvsp: ENST00000531165.1:c.615A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.612A>G
  hgvsp: ENST00000532048.1:c.612A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.534A>G
  hgvsp: ENST00000310513.5:c.534A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.67A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12039
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser204Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

11-47504402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504402
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504402
    reference: chr 11
allele count: 1
allele frequency: 8.27841981522567e-6
allele num: 120796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.532T>C
  hgvsp: ENSP00000354639.3:p.Ser178Pro
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.613T>C
  hgvsp: ENSP00000436864.1:p.Ser205Pro
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.532T>C
  hgvsp: ENSP00000308386.5:p.Ser178Pro
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.532T>C
  hgvsp: ENSP00000351409.3:p.Ser178Pro
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.610T>C
  hgvsp: ENSP00000435926.1:p.Ser204Pro
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.192T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.65T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.532T>C
  hgvsp: ENSP00000378706.2:p.Ser178Pro
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.529T>C
  hgvsp: ENSP00000378705.2:p.Ser177Pro
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12836
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3373
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser204Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

11-47504411-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504411
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504411
    reference: chr 11
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-3C>T
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28209
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: c.604-3C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

11-47504420-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504420
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504420
    reference: chr 11
allele count: 1
allele frequency: 8.384338056510439e-6
allele num: 119270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-12G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-12G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
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: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

11-47504422-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504422
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504422
    reference: chr 11
allele count: 7
allele frequency: 5.881364476558562e-5
allele num: 119020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-14T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-14T>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25814
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

11-47504426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504426
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504426
    reference: chr 11
allele count: 17
allele frequency: 1.435398618639918e-4
allele num: 118434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-18G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-18G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24477
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11885
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6355
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-47504430-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504430
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504429
    reference: chr 11
allele count: 2
allele frequency: 1.695087636030783e-5
allele num: 117988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-23delC
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-23delC
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23206
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35118
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6131
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: AG
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-47504431-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504431
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504431
    reference: chr 11
allele count: 3
allele frequency: 2.546084122619412e-5
allele num: 117828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-23C>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-23C>A
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9637
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

11-47504432-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504432
    reference: chr 11
allele count: 1
allele frequency: 8.499787505312367e-6
allele num: 117650
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-24C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-24C>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9541
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

11-47504441-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504441
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504441
    reference: chr 11
allele count: 0
allele frequency: 0.0e0
allele num: 116370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-33G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-33G>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

11-47504442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504442
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504442
    reference: chr 11
allele count: 486
allele frequency: 4.182876028505525e-3
allele num: 116188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-34G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-34G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.25e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2066
  bin: 3.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 14109
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 1.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 2.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 7758
  bin: 3.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3744
  bin: 9.75e1
  variant carriers: 474
genotype quality: GenotypeQuality
  all individuals: 8799
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3896
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 2
num of homozygotes: 6
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

11-47504447-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504447
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504447
    reference: chr 11
allele count: 1
allele frequency: 8.720524626761546e-6
allele num: 114672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-39A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4413
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

11-47504448-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504448
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504448
    reference: chr 11
allele count: 1
allele frequency: 8.759942534776972e-6
allele num: 114156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-40G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-40G>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14870
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

11-47504458-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504458
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504459
    reference: chr 11
allele count: 3
allele frequency: 2.786912658157294e-5
allele num: 107646
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-51dupT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-51dupT
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

11-47504458-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504458
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504457
    reference: chr 11
allele count: 1
allele frequency: 9.289708860524311e-6
allele num: 107646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.526-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.526-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.607-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.604-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.526-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.523-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.526-51delT
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.59-51delT
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: GA
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-47504957-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504957
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504957
    reference: chr 11
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.522+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.58+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.603+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.606+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.525+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.525+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-549T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.525+48T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.525+48T>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3996
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

11-47504960-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504960
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504960
    reference: chr 11
allele count: 3
allele frequency: 2.473614775725594e-5
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.522+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.58+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-552T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.525+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.525+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.606+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.525+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.603+45T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.525+45T>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

11-47504961-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504961
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504961
    reference: chr 11
allele count: 3
allele frequency: 2.473941153186436e-5
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.525+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.522+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.525+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.58+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.606+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.603+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.525+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.525+44A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-553A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

11-47504971-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504971
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504971
    reference: chr 11
allele count: 3
allele frequency: 2.473288484368817e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.525+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.603+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.525+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.606+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.522+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-563C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.525+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.525+34C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.58+34C>T
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-47504981-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504981
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504981
    reference: chr 11
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.606+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-573G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.525+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.525+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.525+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.525+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.58+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.603+24G>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.522+24G>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

11-47504991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47504991
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47504991
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.525+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.603+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.58+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.522+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-583A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.525+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.525+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.606+14A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.525+14A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

11-47505015-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505015
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505015
    reference: chr 11
allele count: 3
allele frequency: 2.471088267272907e-5
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.515A>G
  hgvsp: ENSP00000354639.3:p.Gln172Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.48A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.512A>G
  hgvsp: ENSP00000378705.2:p.Gln171Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.593A>G
  hgvsp: ENSP00000435926.1:p.Gln198Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.515A>G
  hgvsp: ENSP00000378706.2:p.Gln172Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.515A>G
  hgvsp: ENSP00000351409.3:p.Gln172Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.515A>G
  hgvsp: ENSP00000308386.5:p.Gln172Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.596A>G
  hgvsp: ENSP00000436864.1:p.Gln199Arg
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-607A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln198Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

11-47505023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505023
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505023
    reference: chr 11
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.507C>G
  hgvsp: ENSP00000378706.2:p.His169Gln
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-615C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.507C>G
  hgvsp: ENSP00000354639.3:p.His169Gln
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.40C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.504C>G
  hgvsp: ENSP00000378705.2:p.His168Gln
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.585C>G
  hgvsp: ENSP00000435926.1:p.His195Gln
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.507C>G
  hgvsp: ENSP00000351409.3:p.His169Gln
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.588C>G
  hgvsp: ENSP00000436864.1:p.His196Gln
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.507C>G
  hgvsp: ENSP00000308386.5:p.His169Gln
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His195Gln
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD

11-47505042-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505042
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505042
    reference: chr 11
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.566C>T
  hgvsp: ENSP00000435926.1:p.Thr189Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.569C>T
  hgvsp: ENSP00000436864.1:p.Thr190Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.21C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-634C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.488C>T
  hgvsp: ENSP00000378706.2:p.Thr163Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.485C>T
  hgvsp: ENSP00000378705.2:p.Thr162Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.488C>T
  hgvsp: ENSP00000351409.3:p.Thr163Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.488C>T
  hgvsp: ENSP00000308386.5:p.Thr163Met
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.488C>T
  hgvsp: ENSP00000354639.3:p.Thr163Met
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 8.75e1
  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
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr189Met
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/11-47505049-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505049
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505049
    reference: chr 11
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.481G>T
  hgvsp: ENSP00000378706.2:p.Ala161Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.481G>T
  hgvsp: ENSP00000308386.5:p.Ala161Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-641G>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.481G>T
  hgvsp: ENSP00000354639.3:p.Ala161Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.478G>T
  hgvsp: ENSP00000378705.2:p.Ala160Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.562G>T
  hgvsp: ENSP00000436864.1:p.Ala188Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.14G>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.559G>T
  hgvsp: ENSP00000435926.1:p.Ala187Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.481G>T
  hgvsp: ENSP00000351409.3:p.Ala161Ser
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala187Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

11-47505053-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505053
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505053
    reference: chr 11
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.477C>G
  hgvsp: ENST00000358597.3:c.477C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.474C>G
  hgvsp: ENST00000395290.2:c.474C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.558C>G
  hgvsp: ENST00000531165.1:c.558C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-645C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.555C>G
  hgvsp: ENST00000532048.1:c.555C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.477C>G
  hgvsp: ENST00000310513.5:c.477C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.10C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.477C>G
  hgvsp: ENST00000395292.2:c.477C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.477C>G
  hgvsp: ENST00000361904.3:c.477C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9612
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala185Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/11-47505055-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505055
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505055
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.475G>T
  hgvsp: ENSP00000351409.3:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.472G>T
  hgvsp: ENSP00000378705.2:p.Ala158Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.8G>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.553G>T
  hgvsp: ENSP00000435926.1:p.Ala185Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.475G>T
  hgvsp: ENSP00000354639.3:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.475G>T
  hgvsp: ENSP00000308386.5:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.475G>T
  hgvsp: ENSP00000378706.2:p.Ala159Ser
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-647G>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.556G>T
  hgvsp: ENSP00000436864.1:p.Ala186Ser
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  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: 6529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala185Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-47505060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505060
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505060
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.470C>T
  hgvsp: ENSP00000378706.2:p.Thr157Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.470C>T
  hgvsp: ENSP00000351409.3:p.Thr157Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-652C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.548C>T
  hgvsp: ENSP00000435926.1:p.Thr183Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.551C>T
  hgvsp: ENSP00000436864.1:p.Thr184Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.470C>T
  hgvsp: ENSP00000354639.3:p.Thr157Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.467C>T
  hgvsp: ENSP00000378705.2:p.Thr156Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000532146
  gene symbol: CELF1
  hgvsc: ENST00000532146.1:n.3C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.470C>T
  hgvsp: ENSP00000308386.5:p.Thr157Ile
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8271
  bin: 4.25e1
  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: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr183Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

11-47505063-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505063
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505063
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.464C>T
  hgvsp: ENSP00000378705.2:p.Thr155Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-655C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.467C>T
  hgvsp: ENSP00000378706.2:p.Thr156Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.467C>T
  hgvsp: ENSP00000308386.5:p.Thr156Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.548C>T
  hgvsp: ENSP00000436864.1:p.Thr183Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.467C>T
  hgvsp: ENSP00000354639.3:p.Thr156Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.545C>T
  hgvsp: ENSP00000435926.1:p.Thr182Ile
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.467C>T
  hgvsp: ENSP00000351409.3:p.Thr156Ile
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr182Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-47505092-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505092
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505092
    reference: chr 11
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-684C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-8C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-8C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-8C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-8C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-8C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-8C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-8C>T
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29875
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
hgvs: c.524-8C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-47505098-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505098
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505098
    reference: chr 11
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-14T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-690T>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29872
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

11-47505099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505099
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505099
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-15C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-15C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-15C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-15C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-15C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-691C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-15C>T
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-15C>T
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3636
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3954
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

11-47505114-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505114
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505114
    reference: chr 11
allele count: 32
allele frequency: 2.638261385746793e-4
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-30T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-30T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-30T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-30T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-706T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-30T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-30T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-30T>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7011
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8251
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29870
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 4089
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-47505119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505119
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505119
    reference: chr 11
allele count: 6
allele frequency: 4.947066389630949e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-35A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-35A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-35A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-711A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-35A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-35A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-35A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-35A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8234
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29847
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD

11-47505123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505123
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505123
    reference: chr 11
allele count: 8
allele frequency: 6.596741209842338e-5
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-39A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-715A>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-39A>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5378
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3132
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

11-47505124-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505124
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505122
    reference: chr 11
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-42_446-41delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-42_446-41delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-42_443-41delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-718_186-717delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-42_527-41delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-42_446-41delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-42_524-41delGA
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-42_446-41delGA
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7855
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: TTC
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-47505126-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505126
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505126
    reference: chr 11
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.446-42G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.186-718G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.527-42G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.446-42G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.446-42G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.524-42G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.446-42G>A
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.443-42G>A
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29847
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/11-47505900-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505900
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505900
    reference: chr 11
allele count: 29
allele frequency: 2.404284600971663e-4
allele num: 120618
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.445+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.445+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.442+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.523+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.445+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.185+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.526+41T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.445+41T>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10653
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3739
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3088
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-47505914-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505914
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505914
    reference: chr 11
allele count: 4
allele frequency: 3.308519437551696e-5
allele num: 120900
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.523+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.445+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.526+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.185+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.442+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.445+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.445+27C>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.445+27C>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4791
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14030
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

11-47505922-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505922
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505922
    reference: chr 11
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.445+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.523+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.445+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.445+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.442+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.526+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.445+19T>C
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.185+19T>C
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5613
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/11-47505930-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47505930
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 47505930
    reference: chr 11
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000308386
  ensembl transcript: ENST00000310513
  gene symbol: CELF1
  hgvsc: ENST00000310513.5:c.445+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000436864
  ensembl transcript: ENST00000531165
  gene symbol: CELF1
  hgvsc: ENST00000531165.1:c.526+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378705
  ensembl transcript: ENST00000395290
  gene symbol: CELF1
  hgvsc: ENST00000395290.2:c.442+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000351409
  ensembl transcript: ENST00000358597
  gene symbol: CELF1
  hgvsc: ENST00000358597.3:c.445+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000435926
  ensembl transcript: ENST00000532048
  gene symbol: CELF1
  hgvsc: ENST00000532048.1:c.523+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000354639
  ensembl transcript: ENST00000361904
  gene symbol: CELF1
  hgvsc: ENST00000361904.3:c.445+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl transcript: ENST00000422993
  gene symbol: CELF1
  hgvsc: ENST00000422993.2:n.185+11T>G
  variant of: http://identifiers.org/hgnc/2549
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000149187
  ensembl protein: ENSP00000378706
  ensembl transcript: ENST00000395292
  gene symbol: CELF1
  hgvsc: ENST00000395292.2:c.445+11T>G
  variant of: http://identifiers.org/hgnc/2549
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3509
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14629
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 219
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 901
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.677120719149364e-5
allele num: 59626
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5026
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.407706e6

QD
type: SiteQuality
SIO_000300: 1.092e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.558e-1

FS
type: SiteQuality
SIO_000300: 2.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

GenotypeQuality
all individuals: 1490
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 936
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 457
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29647
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4883
bin: 9.75e1
variant carriers: 300

GenotypeQuality
all individuals: 215
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 8.264462809917355e-4
allele num: 4840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 1.037583583121974e-3
allele num: 8674
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.789717461787865e-4
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 269
allele frequency: 4.649796031252161e-3
allele num: 57852
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 5.361930294906166e-3
allele num: 746
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.257582482615771e-3
allele num: 13518
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

QD
type: SiteQuality
SIO_000300: 1.185e1

FS
type: SiteQuality
SIO_000300: 5.639999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.337e0

DP
type: SiteQuality
SIO_000300: 1.35956e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeQuality
all individuals: 831
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15760
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1696
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4604
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.337255950788981e-4
allele num: 7478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 1.333831e6

QD
type: SiteQuality
SIO_000300: 1.009e1

GenotypeQuality
all individuals: 586
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12258
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4046
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.025764895330113e-5
allele num: 49680
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12454
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

QD
type: SiteQuality
SIO_000300: 1.4e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

DP
type: SiteQuality
SIO_000300: 1.117471e6

GenotypeQuality
all individuals: 24149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3490
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.403705783267827e-4
allele num: 7124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11644
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.334e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

DP
type: SiteQuality
SIO_000300: 9.7952e5

VQSLOD
type: SiteQuality
SIO_000300: 4.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 2640
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24330
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 740
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4688
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4472
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.40607424071991e-4
allele num: 7112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

FS
type: SiteQuality
SIO_000300: 2.269e0

QD
type: SiteQuality
SIO_000300: 1.309e1

MQ
type: SiteQuality
SIO_000300: 6.09e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 9.78575e5

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

GenotypeQuality
all individuals: 277
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1943
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4732
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.591065292096221e-5
allele num: 11640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3476
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

QD
type: SiteQuality
SIO_000300: 1.309e1

FS
type: SiteQuality
SIO_000300: 2.269e0

MQ
type: SiteQuality
SIO_000300: 6.09e1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

DP
type: SiteQuality
SIO_000300: 9.78575e5

GenotypeQuality
all individuals: 1107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4838
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.296422174252514e-5
allele num: 43546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 574
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQRankSum
type: SiteQuality
SIO_000300: -2.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.12e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 9.66376e5

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.09e1

GenotypeQuality
all individuals: 1183
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5894
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4209
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
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variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5630
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.526251526251526e-4
allele num: 6552
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37968
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.16003e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

QD
type: SiteQuality
SIO_000300: 1.379e1

MQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.259e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
all individuals: 950
bin: 3.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519803033526855e-5
allele num: 65798
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.205e1

MQ
type: SiteQuality
SIO_000300: 5.946e1

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.173e0

DP
type: SiteQuality
SIO_000300: 1.721548e6

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65790
num of homozygotes: 0

East Asian
type: Population
allele count: 47
allele frequency: 5.441074322759898e-3
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.651e0

QD
type: SiteQuality
SIO_000300: 1.142e1

DP
type: SiteQuality
SIO_000300: 1.725137e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

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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variant carriers: 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: 10372
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: 0
allele frequency: 0.0e0
allele num: 65852
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.968641114982578e-5
allele num: 14350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

FS
type: SiteQuality
SIO_000300: 2.835e0

DP
type: SiteQuality
SIO_000300: 1.725264e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.88e-1

QD
type: SiteQuality
SIO_000300: 1.803e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.959910913140311e-5
allele num: 14368
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 7.209e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e0

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

QD
type: SiteQuality
SIO_000300: 1.233e1

DP
type: SiteQuality
SIO_000300: 1.72872e6

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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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65864
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: 11552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.233e1

ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.209e0

DP
type: SiteQuality
SIO_000300: 1.72872e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
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: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66006
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African
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.49e-1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
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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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele 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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003724618526973e-5
allele num: 66584
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
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num of homozygotes: 0

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

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

East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.63e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
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: 8652
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.208e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.498e0

MQRankSum
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SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.353e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.778782e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.374e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

BaseQRankSum
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SIO_000300: -4.476e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 1.779283e6

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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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.196e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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ReadPosRankSum
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SIO_000300: -6.28e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.585e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 20

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
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: 17
allele frequency: 1.029678982434888e-3
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.779252e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

Other
type: Population
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.09e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
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SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.778255e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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DP
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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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variant carriers: 1

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

MQ
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SIO_000300: 5.422e1

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

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

European (Non-Finnish)
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num of homozygotes: 0

Other
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East Asian
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African
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Latino
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South Asian
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 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: 6614
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.7e-2

VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
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FS
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.387e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
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SIO_000300: 8.6e0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
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DP
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BaseQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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MQRankSum
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ClippingRankSum
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VQSLOD
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SIO_000300: -1.856e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 3.877e0

DP
type: SiteQuality
SIO_000300: 1.76707e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.515895953757225e-5
allele num: 66432
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.07e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 7.215e0

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.750792e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -1.549e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510710940568632e-5
allele num: 66194
num of homozygotes: 0

ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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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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Other
type: Population
allele count: 0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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East Asian
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African
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South Asian
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele frequency: 9.160864785635764e-5
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Latino
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South Asian
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allele num: 16130
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.026e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.669439e6

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 16

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4658
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 17
allele frequency: 2.025738798856053e-3
allele num: 8392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16032
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

DP
type: SiteQuality
SIO_000300: 1.63751e6

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

QD
type: SiteQuality
SIO_000300: 1.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3322
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 355
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077964849641417e-5
allele num: 64978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 1.602591e6

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

MQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.4e1

GenotypeQuality
all individuals: 337
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 367
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.624063627115509e-5
allele num: 64878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

DP
type: SiteQuality
SIO_000300: 1.592653e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.317e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1304
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3316
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.283775292195552e-5
allele num: 15914
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.843e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.583004e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.634e1

VQSLOD
type: SiteQuality
SIO_000300: -4.391e-1

GenotypeQuality
all individuals: 8705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3310
bin: 9.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 1240
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64012
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.089e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.437982e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 3.35e1

GenotypeQuality
all individuals: 363
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4257
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 787
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1019
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GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 22458
bin: 6.25e1
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GenotypeQuality
all individuals: 114
bin: 1.75e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.5662100456621e-3
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 246
allele frequency: 3.023598820058997e-2
allele num: 8136
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.502267680085077e-4
allele num: 63942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Latino
type: Population
allele count: 198
allele frequency: 1.821527138914443e-2
allele num: 10870
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 22
allele frequency: 1.394346558499176e-3
allele num: 15778
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.4e0

DP
type: SiteQuality
SIO_000300: 1.420089e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2569
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7141
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 768
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GenotypeQuality
all individuals: 3283
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10718
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.261670451678022e-4
allele num: 7926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63084
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

DP
type: SiteQuality
SIO_000300: 1.31389e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.49e0

FS
type: SiteQuality
SIO_000300: 4.403e0

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.624e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 418
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8069
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variant carriers: 0

GenotypeQuality
all individuals: 3178
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variant carriers: 0

GenotypeQuality
all individuals: 4443
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GenotypeQuality
all individuals: 1097
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GenotypeQuality
all individuals: 3158
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GenotypeQuality
all individuals: 910
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 13146
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GenotypeQuality
all individuals: 766
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GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 3284
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variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592508838424053e-5
allele num: 62794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.604e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.524e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.297918e6

GenotypeQuality
all individuals: 739
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variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1877
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GenotypeQuality
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GenotypeQuality
all individuals: 690
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1062
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GenotypeQuality
all individuals: 3276
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GenotypeQuality
all individuals: 5194
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GenotypeQuality
all individuals: 323
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GenotypeQuality
all individuals: 8124
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GenotypeQuality
all individuals: 998
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GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6131
bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.373437714599643e-4
allele num: 14562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.688618709895306e-5
allele num: 59220
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

QD
type: SiteQuality
SIO_000300: 4.76e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
SIO_000300: 1.21452e6

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.059e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.5e0
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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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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59220
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9604
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.016053647632595e-4
allele num: 9842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14562
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

DP
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SIO_000300: 1.21452e6

QD
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BaseQRankSum
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SIO_000300: -1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 2.926129e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.389e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.927403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.638e0

FS
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.969e0

QD
type: SiteQuality
SIO_000300: 1.499e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.824151769427216e-4
allele num: 16446
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

QD
type: SiteQuality
SIO_000300: 1.559e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 2.927405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499835018148004e-5
allele num: 66674
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

DP
type: SiteQuality
SIO_000300: 2.931777e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.991e1

MQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.345e1

FS
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.830000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

European (Finnish)
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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: 66704
num of homozygotes: 0

South Asian
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East Asian
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Other
type: Population
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BaseQRankSum
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SIO_000300: -9.57e-1

InbreedingCoeff
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DP
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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QD
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FS
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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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Other
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allele num: 908
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Latino
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European (Non-Finnish)
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allele frequency: 1.498351813005694e-5
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African
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East Asian
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European (Finnish)
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South Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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QD
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DP
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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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Other
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East Asian
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South Asian
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European (Finnish)
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African
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European (Non-Finnish)
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FS
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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QD
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DP
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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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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European (Finnish)
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European (Non-Finnish)
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East Asian
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African
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South Asian
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Other
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Latino
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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DP
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FS
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VQSLOD
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QD
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ReadPosRankSum
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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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East Asian
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European (Non-Finnish)
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European (Finnish)
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Latino
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African
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South Asian
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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QD
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FS
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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South Asian
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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VQSLOD
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DP
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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Latino
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East Asian
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InbreedingCoeff
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MQRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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QD
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 10404
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.718e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.93e-1

FS
type: SiteQuality
SIO_000300: 2.29e0

DP
type: SiteQuality
SIO_000300: 2.932877e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

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

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.364e1

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 6.995e0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.413e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 2.25e-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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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 29
allele frequency: 2.50561603594263e-3
allele num: 11574
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499100179964007e-5
allele num: 66680
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.91e0

DP
type: SiteQuality
SIO_000300: 2.922214e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.9e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 6.942837306179125e-4
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.914814e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 7.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.462e1

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

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

African
type: Population
allele count: 6
allele frequency: 5.76923076923077e-4
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.90901e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.642e1

MQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 131
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 16462
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: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.017e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

MQRankSum
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SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.66e-1

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

QD
type: SiteQuality
SIO_000300: 1.54e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-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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variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31696014828545e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 66642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.39e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.901851e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 29
allele frequency: 1.757149781871062e-3
allele num: 16504
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.35082e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

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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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

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

South Asian
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allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 5.021e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3900
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GenotypeQuality
all individuals: 14427
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.773260359655981e-5
allele num: 10232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 66632
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.36831e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.512e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.2226e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e0

QD
type: SiteQuality
SIO_000300: 1.323e1

MQ
type: SiteQuality
SIO_000300: 6.007e1

GenotypeQuality
all individuals: 3764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19505
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3899
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

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